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You searched for subject:(Phenotype genotype correlation). Showing records 1 – 17 of 17 total matches.

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Univerzitet u Beogradu

1. Sarajlija, Adrijan, 1976-. Epidemiološko-klinička studija Retovog sindroma u populaciji Srbije.

Degree: Medicinski fakultet, 2015, Univerzitet u Beogradu

Epidemiologija - Epidemiology

Retov sindrom (RTT) je teţak neurorazvojni poremećaj koji se uglavnom susreće kod osoba ţenskog pola. U različitim delovima sveta RTT ima prevalenciju… (more)

Subjects/Keywords: Rett syndrome; incidence; genotype-phenotype correlation

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APA (6th Edition):

Sarajlija, Adrijan, 1. (2015). Epidemiološko-klinička studija Retovog sindroma u populaciji Srbije. (Thesis). Univerzitet u Beogradu. Retrieved from https://fedorabg.bg.ac.rs/fedora/get/o:9655/bdef:Content/get

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Sarajlija, Adrijan, 1976-. “Epidemiološko-klinička studija Retovog sindroma u populaciji Srbije.” 2015. Thesis, Univerzitet u Beogradu. Accessed January 24, 2020. https://fedorabg.bg.ac.rs/fedora/get/o:9655/bdef:Content/get.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Sarajlija, Adrijan, 1976-. “Epidemiološko-klinička studija Retovog sindroma u populaciji Srbije.” 2015. Web. 24 Jan 2020.

Vancouver:

Sarajlija, Adrijan 1. Epidemiološko-klinička studija Retovog sindroma u populaciji Srbije. [Internet] [Thesis]. Univerzitet u Beogradu; 2015. [cited 2020 Jan 24]. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:9655/bdef:Content/get.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Sarajlija, Adrijan 1. Epidemiološko-klinička studija Retovog sindroma u populaciji Srbije. [Thesis]. Univerzitet u Beogradu; 2015. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:9655/bdef:Content/get

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


University of Iowa

2. Booth, Kevin T. Unraveling the genotypic and phenotypic complexities of genetic hearing loss.

Degree: PhD, Molecular and Cell Biology, 2018, University of Iowa

  Hereditary hearing loss is the most common sensory disorder, affecting 1 in 500 newborns. There are more than 538 million individuals with genetic hearing… (more)

Subjects/Keywords: Deafness; Genetics; Genotype-Phenotype Correlation; Hereditary hearing loss; Mutational Landscape; RNA-splicing

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APA (6th Edition):

Booth, K. T. (2018). Unraveling the genotypic and phenotypic complexities of genetic hearing loss. (Doctoral Dissertation). University of Iowa. Retrieved from https://ir.uiowa.edu/etd/6549

Chicago Manual of Style (16th Edition):

Booth, Kevin T. “Unraveling the genotypic and phenotypic complexities of genetic hearing loss.” 2018. Doctoral Dissertation, University of Iowa. Accessed January 24, 2020. https://ir.uiowa.edu/etd/6549.

MLA Handbook (7th Edition):

Booth, Kevin T. “Unraveling the genotypic and phenotypic complexities of genetic hearing loss.” 2018. Web. 24 Jan 2020.

Vancouver:

Booth KT. Unraveling the genotypic and phenotypic complexities of genetic hearing loss. [Internet] [Doctoral dissertation]. University of Iowa; 2018. [cited 2020 Jan 24]. Available from: https://ir.uiowa.edu/etd/6549.

Council of Science Editors:

Booth KT. Unraveling the genotypic and phenotypic complexities of genetic hearing loss. [Doctoral Dissertation]. University of Iowa; 2018. Available from: https://ir.uiowa.edu/etd/6549

3. 片山, 幸樹. New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia : TRPM6 新規変異と二次性低カルシウムを伴う低マグネシウム.

Degree: 博士(医学), 2018, Kurume University / 久留米大学

2014年度

Subjects/Keywords: TRPM6; HSH; Genotype?phenotype correlation; Magnesium; Mental retardation

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APA (6th Edition):

片山, . (2018). New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia : TRPM6 新規変異と二次性低カルシウムを伴う低マグネシウム. (Thesis). Kurume University / 久留米大学. Retrieved from http://hdl.handle.net/11316/367

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

片山, 幸樹. “New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia : TRPM6 新規変異と二次性低カルシウムを伴う低マグネシウム.” 2018. Thesis, Kurume University / 久留米大学. Accessed January 24, 2020. http://hdl.handle.net/11316/367.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

片山, 幸樹. “New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia : TRPM6 新規変異と二次性低カルシウムを伴う低マグネシウム.” 2018. Web. 24 Jan 2020.

Vancouver:

片山 . New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia : TRPM6 新規変異と二次性低カルシウムを伴う低マグネシウム. [Internet] [Thesis]. Kurume University / 久留米大学; 2018. [cited 2020 Jan 24]. Available from: http://hdl.handle.net/11316/367.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

片山 . New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia : TRPM6 新規変異と二次性低カルシウムを伴う低マグネシウム. [Thesis]. Kurume University / 久留米大学; 2018. Available from: http://hdl.handle.net/11316/367

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

4. Sancak, Ozgur. Tuberous Sclerosis Complex: mutations, functions and phenotypes.

Degree: 2005, Erasmus University Medical Center

 textabstractTuberous sclerosis complex (TSC) is an autosomal dominant disorder characterised by the development of hamartomas in multiple organs and tissues. TSC is caused by mutations… (more)

Subjects/Keywords: TSC1 and TSC2; genotype–phenotype correlation; tuberous sclerosis complex

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APA (6th Edition):

Sancak, O. (2005). Tuberous Sclerosis Complex: mutations, functions and phenotypes. (Doctoral Dissertation). Erasmus University Medical Center. Retrieved from http://hdl.handle.net/1765/7161

Chicago Manual of Style (16th Edition):

Sancak, Ozgur. “Tuberous Sclerosis Complex: mutations, functions and phenotypes.” 2005. Doctoral Dissertation, Erasmus University Medical Center. Accessed January 24, 2020. http://hdl.handle.net/1765/7161.

MLA Handbook (7th Edition):

Sancak, Ozgur. “Tuberous Sclerosis Complex: mutations, functions and phenotypes.” 2005. Web. 24 Jan 2020.

Vancouver:

Sancak O. Tuberous Sclerosis Complex: mutations, functions and phenotypes. [Internet] [Doctoral dissertation]. Erasmus University Medical Center; 2005. [cited 2020 Jan 24]. Available from: http://hdl.handle.net/1765/7161.

Council of Science Editors:

Sancak O. Tuberous Sclerosis Complex: mutations, functions and phenotypes. [Doctoral Dissertation]. Erasmus University Medical Center; 2005. Available from: http://hdl.handle.net/1765/7161


Univerzitet u Beogradu

5. Klaassen, Kristel M., 1984-. Uticaj varijanti u kodirajućim i nekodirajućim regionima gena uzročnika i gena modifikatora na fenotip pacijenata sa hiperfenilalaninemijom.

Degree: Biološki fakultet, 2016, Univerzitet u Beogradu

Molekularna biologija eukariota - Molekularna genetika / Molecular biology of eukaryotes - Molecular genetics

Hiperfenilalaninemija (HPA) predstavlja najčešći nasledni poremećaj metabolizma aminokiselina (učestalost 1:10 000)… (more)

Subjects/Keywords: DNA variants; genotype – phenotype correlation; hyperphenylalaninemia; modifier genes; new generation sequencing; PAH gene; phenylketonuria; regulation of transcription; tetrahydrobiopterin deficiency

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APA (6th Edition):

Klaassen, Kristel M., 1. (2016). Uticaj varijanti u kodirajućim i nekodirajućim regionima gena uzročnika i gena modifikatora na fenotip pacijenata sa hiperfenilalaninemijom. (Thesis). Univerzitet u Beogradu. Retrieved from https://fedorabg.bg.ac.rs/fedora/get/o:10738/bdef:Content/get

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Klaassen, Kristel M., 1984-. “Uticaj varijanti u kodirajućim i nekodirajućim regionima gena uzročnika i gena modifikatora na fenotip pacijenata sa hiperfenilalaninemijom.” 2016. Thesis, Univerzitet u Beogradu. Accessed January 24, 2020. https://fedorabg.bg.ac.rs/fedora/get/o:10738/bdef:Content/get.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Klaassen, Kristel M., 1984-. “Uticaj varijanti u kodirajućim i nekodirajućim regionima gena uzročnika i gena modifikatora na fenotip pacijenata sa hiperfenilalaninemijom.” 2016. Web. 24 Jan 2020.

Vancouver:

Klaassen, Kristel M. 1. Uticaj varijanti u kodirajućim i nekodirajućim regionima gena uzročnika i gena modifikatora na fenotip pacijenata sa hiperfenilalaninemijom. [Internet] [Thesis]. Univerzitet u Beogradu; 2016. [cited 2020 Jan 24]. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:10738/bdef:Content/get.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Klaassen, Kristel M. 1. Uticaj varijanti u kodirajućim i nekodirajućim regionima gena uzročnika i gena modifikatora na fenotip pacijenata sa hiperfenilalaninemijom. [Thesis]. Univerzitet u Beogradu; 2016. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:10738/bdef:Content/get

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Univerzitet u Beogradu

6. Milačić, Iva D., 1981-. Molekularno-genetička osnova kongenitalne adrenalne hiperplazije u Srbiji: karakterizacija mutacija u CYP21A2 genu.

Degree: Biološki fakultet, 2017, Univerzitet u Beogradu

Biologija - Genetika / Biology - Genetics

Kongenitalna adrenalna hiperplazija (KAH) obuhvata grupu autozomno recesivnih oboljenja okarakterisanih narušenom sintezom steroidnih hormona u kori nadbubreţne ţlezde… (more)

Subjects/Keywords: steroid 21-hydroxylase deficiency; CYP21A2 gene; mutation detection; CYP21A1P/CYP21A2 chimerae; genotype-phenotype correlation; diagnostic algorithm

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APA (6th Edition):

Milačić, Iva D., 1. (2017). Molekularno-genetička osnova kongenitalne adrenalne hiperplazije u Srbiji: karakterizacija mutacija u CYP21A2 genu. (Thesis). Univerzitet u Beogradu. Retrieved from https://fedorabg.bg.ac.rs/fedora/get/o:16824/bdef:Content/get

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Milačić, Iva D., 1981-. “Molekularno-genetička osnova kongenitalne adrenalne hiperplazije u Srbiji: karakterizacija mutacija u CYP21A2 genu.” 2017. Thesis, Univerzitet u Beogradu. Accessed January 24, 2020. https://fedorabg.bg.ac.rs/fedora/get/o:16824/bdef:Content/get.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Milačić, Iva D., 1981-. “Molekularno-genetička osnova kongenitalne adrenalne hiperplazije u Srbiji: karakterizacija mutacija u CYP21A2 genu.” 2017. Web. 24 Jan 2020.

Vancouver:

Milačić, Iva D. 1. Molekularno-genetička osnova kongenitalne adrenalne hiperplazije u Srbiji: karakterizacija mutacija u CYP21A2 genu. [Internet] [Thesis]. Univerzitet u Beogradu; 2017. [cited 2020 Jan 24]. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:16824/bdef:Content/get.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Milačić, Iva D. 1. Molekularno-genetička osnova kongenitalne adrenalne hiperplazije u Srbiji: karakterizacija mutacija u CYP21A2 genu. [Thesis]. Univerzitet u Beogradu; 2017. Available from: https://fedorabg.bg.ac.rs/fedora/get/o:16824/bdef:Content/get

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

7. Pieterman, C.R.C. Long-term outcome of Multiple Endocrine Neoplasia type 1 related manifestations : Results from the DutchMEN1 Study Group.

Degree: 2018, University Utrecht

 Multiple Endocrine Neoplasia type 1 (MEN1) is a rare syndrome caused by mutations in the MEN1 gene on chromosome 11. It is characterized by the… (more)

Subjects/Keywords: MEN1; NF-pNETs; pHPT; Natural course; genotype-phenotype correlation

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APA (6th Edition):

Pieterman, C. R. C. (2018). Long-term outcome of Multiple Endocrine Neoplasia type 1 related manifestations : Results from the DutchMEN1 Study Group. (Doctoral Dissertation). University Utrecht. Retrieved from http://dspace.library.uu.nl/handle/1874/362800 ; URN:NBN:NL:UI:10-1874-362800 ; urn:isbn:978-90-393-6954-8 ; URN:NBN:NL:UI:10-1874-362800 ; http://dspace.library.uu.nl/handle/1874/362800

Chicago Manual of Style (16th Edition):

Pieterman, C R C. “Long-term outcome of Multiple Endocrine Neoplasia type 1 related manifestations : Results from the DutchMEN1 Study Group.” 2018. Doctoral Dissertation, University Utrecht. Accessed January 24, 2020. http://dspace.library.uu.nl/handle/1874/362800 ; URN:NBN:NL:UI:10-1874-362800 ; urn:isbn:978-90-393-6954-8 ; URN:NBN:NL:UI:10-1874-362800 ; http://dspace.library.uu.nl/handle/1874/362800.

MLA Handbook (7th Edition):

Pieterman, C R C. “Long-term outcome of Multiple Endocrine Neoplasia type 1 related manifestations : Results from the DutchMEN1 Study Group.” 2018. Web. 24 Jan 2020.

Vancouver:

Pieterman CRC. Long-term outcome of Multiple Endocrine Neoplasia type 1 related manifestations : Results from the DutchMEN1 Study Group. [Internet] [Doctoral dissertation]. University Utrecht; 2018. [cited 2020 Jan 24]. Available from: http://dspace.library.uu.nl/handle/1874/362800 ; URN:NBN:NL:UI:10-1874-362800 ; urn:isbn:978-90-393-6954-8 ; URN:NBN:NL:UI:10-1874-362800 ; http://dspace.library.uu.nl/handle/1874/362800.

Council of Science Editors:

Pieterman CRC. Long-term outcome of Multiple Endocrine Neoplasia type 1 related manifestations : Results from the DutchMEN1 Study Group. [Doctoral Dissertation]. University Utrecht; 2018. Available from: http://dspace.library.uu.nl/handle/1874/362800 ; URN:NBN:NL:UI:10-1874-362800 ; urn:isbn:978-90-393-6954-8 ; URN:NBN:NL:UI:10-1874-362800 ; http://dspace.library.uu.nl/handle/1874/362800

8. Pieterman, C.R.C. Long-term outcome of Multiple Endocrine Neoplasia type 1 related manifestations : Results from the DutchMEN1 Study Group.

Degree: 2018, University Utrecht

 Multiple Endocrine Neoplasia type 1 (MEN1) is a rare syndrome caused by mutations in the MEN1 gene on chromosome 11. It is characterized by the… (more)

Subjects/Keywords: MEN1; NF-pNETs; pHPT; Natural course; genotype-phenotype correlation

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APA (6th Edition):

Pieterman, C. R. C. (2018). Long-term outcome of Multiple Endocrine Neoplasia type 1 related manifestations : Results from the DutchMEN1 Study Group. (Doctoral Dissertation). University Utrecht. Retrieved from http://dspace.library.uu.nl/handle/1874/362800 ; URN:NBN:NL:UI:10-1874-362800 ; urn:isbn:978-90-393-6954-8 ; URN:NBN:NL:UI:10-1874-362800 ; http://dspace.library.uu.nl/handle/1874/362800

Chicago Manual of Style (16th Edition):

Pieterman, C R C. “Long-term outcome of Multiple Endocrine Neoplasia type 1 related manifestations : Results from the DutchMEN1 Study Group.” 2018. Doctoral Dissertation, University Utrecht. Accessed January 24, 2020. http://dspace.library.uu.nl/handle/1874/362800 ; URN:NBN:NL:UI:10-1874-362800 ; urn:isbn:978-90-393-6954-8 ; URN:NBN:NL:UI:10-1874-362800 ; http://dspace.library.uu.nl/handle/1874/362800.

MLA Handbook (7th Edition):

Pieterman, C R C. “Long-term outcome of Multiple Endocrine Neoplasia type 1 related manifestations : Results from the DutchMEN1 Study Group.” 2018. Web. 24 Jan 2020.

Vancouver:

Pieterman CRC. Long-term outcome of Multiple Endocrine Neoplasia type 1 related manifestations : Results from the DutchMEN1 Study Group. [Internet] [Doctoral dissertation]. University Utrecht; 2018. [cited 2020 Jan 24]. Available from: http://dspace.library.uu.nl/handle/1874/362800 ; URN:NBN:NL:UI:10-1874-362800 ; urn:isbn:978-90-393-6954-8 ; URN:NBN:NL:UI:10-1874-362800 ; http://dspace.library.uu.nl/handle/1874/362800.

Council of Science Editors:

Pieterman CRC. Long-term outcome of Multiple Endocrine Neoplasia type 1 related manifestations : Results from the DutchMEN1 Study Group. [Doctoral Dissertation]. University Utrecht; 2018. Available from: http://dspace.library.uu.nl/handle/1874/362800 ; URN:NBN:NL:UI:10-1874-362800 ; urn:isbn:978-90-393-6954-8 ; URN:NBN:NL:UI:10-1874-362800 ; http://dspace.library.uu.nl/handle/1874/362800

9. 渡辺, 聡. Detailed Analysis of 26 cases of 1q Partial Duplication/Triplication Syndrome : 1q部分重複症候群26例の検討.

Degree: 博士(医学), 2016, Nagasaki University / 長崎大学

 Partial 1q trisomy syndrome is a rare disorder. Because unbalanced chromosomal translocations often occur with 1q trisomy, it is difficult to determine whether patient symptoms… (more)

Subjects/Keywords: trisomy 1q; tetrasomy 1q; microarray; genotype–phenotype correlation

…Page 6 of 17 instructions (Affymetrix) and the genotype was called using the… …phenotype. The birth weight of affected patients tended to be low, with eight cases below the 3rd… …cryptorchidism) were also often observed. These symptoms are summarized in Table II. Phenotype… …genotype correlations suggested that the number of symptoms increased as the duplicated region… …x29; in adulthood: further delineation of the phenotype. Ann Genet 41(2):77-81… 

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APA (6th Edition):

渡辺, . (2016). Detailed Analysis of 26 cases of 1q Partial Duplication/Triplication Syndrome : 1q部分重複症候群26例の検討. (Thesis). Nagasaki University / 長崎大学. Retrieved from http://hdl.handle.net/10069/36974

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

渡辺, 聡. “Detailed Analysis of 26 cases of 1q Partial Duplication/Triplication Syndrome : 1q部分重複症候群26例の検討.” 2016. Thesis, Nagasaki University / 長崎大学. Accessed January 24, 2020. http://hdl.handle.net/10069/36974.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

渡辺, 聡. “Detailed Analysis of 26 cases of 1q Partial Duplication/Triplication Syndrome : 1q部分重複症候群26例の検討.” 2016. Web. 24 Jan 2020.

Vancouver:

渡辺 . Detailed Analysis of 26 cases of 1q Partial Duplication/Triplication Syndrome : 1q部分重複症候群26例の検討. [Internet] [Thesis]. Nagasaki University / 長崎大学; 2016. [cited 2020 Jan 24]. Available from: http://hdl.handle.net/10069/36974.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

渡辺 . Detailed Analysis of 26 cases of 1q Partial Duplication/Triplication Syndrome : 1q部分重複症候群26例の検討. [Thesis]. Nagasaki University / 長崎大学; 2016. Available from: http://hdl.handle.net/10069/36974

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ)

10. Καλογερίδης, Αθανάσιος. Φαινοτυπική και γενοτυπική ανάλυση ασθενών με κυστική ίνωση από τη βόρεια Ελλάδα.

Degree: 2010, Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ)

 In order to study the distribution of CF mutations in northern Greece, 83 patients originated from northern Greece, were analysed initially for the 11 most… (more)

Subjects/Keywords: Μονογονιδιακά νοσήματα; Γενετική ανθρώπου; Κυστική ίνωση; Μεταλλάξεις; Πολυμορφισμοί; Σχέση γενοτύπου - φαινοτύπου; Τροποποιητικά γονίδια; Monogenic diseases; Human genetic; Cystic fibrosis; Mutations; Polymorphisms; Genotype - phenotype correlation; Modifier genes

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APA (6th Edition):

Καλογερίδης, . . (2010). Φαινοτυπική και γενοτυπική ανάλυση ασθενών με κυστική ίνωση από τη βόρεια Ελλάδα. (Thesis). Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ). Retrieved from http://hdl.handle.net/10442/hedi/27206

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Καλογερίδης, Αθανάσιος. “Φαινοτυπική και γενοτυπική ανάλυση ασθενών με κυστική ίνωση από τη βόρεια Ελλάδα.” 2010. Thesis, Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ). Accessed January 24, 2020. http://hdl.handle.net/10442/hedi/27206.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Καλογερίδης, Αθανάσιος. “Φαινοτυπική και γενοτυπική ανάλυση ασθενών με κυστική ίνωση από τη βόρεια Ελλάδα.” 2010. Web. 24 Jan 2020.

Vancouver:

Καλογερίδης . Φαινοτυπική και γενοτυπική ανάλυση ασθενών με κυστική ίνωση από τη βόρεια Ελλάδα. [Internet] [Thesis]. Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ); 2010. [cited 2020 Jan 24]. Available from: http://hdl.handle.net/10442/hedi/27206.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Καλογερίδης . Φαινοτυπική και γενοτυπική ανάλυση ασθενών με κυστική ίνωση από τη βόρεια Ελλάδα. [Thesis]. Aristotle University Of Thessaloniki (AUTH); Αριστοτέλειο Πανεπιστήμιο Θεσσαλονίκης (ΑΠΘ); 2010. Available from: http://hdl.handle.net/10442/hedi/27206

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Université Montpellier II

11. Jourdan, Hélène. Variabilité des traits d'histoire de vie en populations fragmentées : stratégies de reproduction chez le Pélodyte ponctué, Pelodytes punctatus (Anoure) : Variability of life history traits in fragmented populations : breeding strategies in Parsley frog, Pelodytes punctatus (anuran).

Degree: Docteur es, Biologie des populations et écologie, 2010, Université Montpellier II

La variabilité phénotypique a tendance à augmenter lorsque l'environnement est variable dans le temps ou l'espace. Cette thèse traite plus précisément de la variabilité des… (more)

Subjects/Keywords: Traits d'histoire de vie; Phénologie de reproduction; Développement larvaire; Plasticité phénotypique; Fragmentation; Corrélation phénotype/génotype; Life history traits; Breeding phenology; Larval development; Phenotypic plasticity; Fragmentation; Phenotype/genotype correlation

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APA (6th Edition):

Jourdan, H. (2010). Variabilité des traits d'histoire de vie en populations fragmentées : stratégies de reproduction chez le Pélodyte ponctué, Pelodytes punctatus (Anoure) : Variability of life history traits in fragmented populations : breeding strategies in Parsley frog, Pelodytes punctatus (anuran). (Doctoral Dissertation). Université Montpellier II. Retrieved from http://www.theses.fr/2010MON20057

Chicago Manual of Style (16th Edition):

Jourdan, Hélène. “Variabilité des traits d'histoire de vie en populations fragmentées : stratégies de reproduction chez le Pélodyte ponctué, Pelodytes punctatus (Anoure) : Variability of life history traits in fragmented populations : breeding strategies in Parsley frog, Pelodytes punctatus (anuran).” 2010. Doctoral Dissertation, Université Montpellier II. Accessed January 24, 2020. http://www.theses.fr/2010MON20057.

MLA Handbook (7th Edition):

Jourdan, Hélène. “Variabilité des traits d'histoire de vie en populations fragmentées : stratégies de reproduction chez le Pélodyte ponctué, Pelodytes punctatus (Anoure) : Variability of life history traits in fragmented populations : breeding strategies in Parsley frog, Pelodytes punctatus (anuran).” 2010. Web. 24 Jan 2020.

Vancouver:

Jourdan H. Variabilité des traits d'histoire de vie en populations fragmentées : stratégies de reproduction chez le Pélodyte ponctué, Pelodytes punctatus (Anoure) : Variability of life history traits in fragmented populations : breeding strategies in Parsley frog, Pelodytes punctatus (anuran). [Internet] [Doctoral dissertation]. Université Montpellier II; 2010. [cited 2020 Jan 24]. Available from: http://www.theses.fr/2010MON20057.

Council of Science Editors:

Jourdan H. Variabilité des traits d'histoire de vie en populations fragmentées : stratégies de reproduction chez le Pélodyte ponctué, Pelodytes punctatus (Anoure) : Variability of life history traits in fragmented populations : breeding strategies in Parsley frog, Pelodytes punctatus (anuran). [Doctoral Dissertation]. Université Montpellier II; 2010. Available from: http://www.theses.fr/2010MON20057


University of Helsinki

12. Järvinen, Hanna. Sytokromi P450 2C19- tai sytokromi P450 2D6 -genotyypatut ihmisen maksan mikrosomit lääkeaineiden farmakokinetiikassa esiintyvän yksilöllisen vaihtelun ennustamisessa.

Degree: Farmaceutiska fakulteten, 2017, University of Helsinki

 Interindividual variability in drug responses can complicate the determination of drug doses and increase drug-related risks. The variability can be caused by pharmacokinetics or pharmacodynamics… (more)

Subjects/Keywords: CYP2C19; CYP2D6; interindividual variability; genetic polymorphism; PBPK simulation models; genotyped microsomes; genotype-phenotype correlation; yksilöllinen vaihtelu; geneettinen polymorfia; PBPK-simulaatiomallit; genotyypatut mikrosomit; genotyyppi-fenotyyppi-korrelaatio; Biofarmaci; Biopharmacy; Biofarmasia; CYP2C19; CYP2D6; interindividual variability; genetic polymorphism; PBPK simulation models; genotyped microsomes; genotype-phenotype correlation; yksilöllinen vaihtelu; geneettinen polymorfia; PBPK-simulaatiomallit; genotyypatut mikrosomit; genotyyppi-fenotyyppi-korrelaatio

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APA (6th Edition):

Järvinen, H. (2017). Sytokromi P450 2C19- tai sytokromi P450 2D6 -genotyypatut ihmisen maksan mikrosomit lääkeaineiden farmakokinetiikassa esiintyvän yksilöllisen vaihtelun ennustamisessa. (Masters Thesis). University of Helsinki. Retrieved from http://hdl.handle.net/10138/199518

Chicago Manual of Style (16th Edition):

Järvinen, Hanna. “Sytokromi P450 2C19- tai sytokromi P450 2D6 -genotyypatut ihmisen maksan mikrosomit lääkeaineiden farmakokinetiikassa esiintyvän yksilöllisen vaihtelun ennustamisessa.” 2017. Masters Thesis, University of Helsinki. Accessed January 24, 2020. http://hdl.handle.net/10138/199518.

MLA Handbook (7th Edition):

Järvinen, Hanna. “Sytokromi P450 2C19- tai sytokromi P450 2D6 -genotyypatut ihmisen maksan mikrosomit lääkeaineiden farmakokinetiikassa esiintyvän yksilöllisen vaihtelun ennustamisessa.” 2017. Web. 24 Jan 2020.

Vancouver:

Järvinen H. Sytokromi P450 2C19- tai sytokromi P450 2D6 -genotyypatut ihmisen maksan mikrosomit lääkeaineiden farmakokinetiikassa esiintyvän yksilöllisen vaihtelun ennustamisessa. [Internet] [Masters thesis]. University of Helsinki; 2017. [cited 2020 Jan 24]. Available from: http://hdl.handle.net/10138/199518.

Council of Science Editors:

Järvinen H. Sytokromi P450 2C19- tai sytokromi P450 2D6 -genotyypatut ihmisen maksan mikrosomit lääkeaineiden farmakokinetiikassa esiintyvän yksilöllisen vaihtelun ennustamisessa. [Masters Thesis]. University of Helsinki; 2017. Available from: http://hdl.handle.net/10138/199518

13. Hernández Ruiz, Mª Isabel. Factores genéticos asociados a la degeneración lobar frontotemporal. Análisis de susceptibilidad genética y correlación fenotipo-genotipo.

Degree: Departament de Medicina, 2014, Universitat Autònoma de Barcelona

 Frontotemporal Lobar Degeneration is a heterogeneous group of disorders, the second most frequent cause of early dementia and the one with the highest number of… (more)

Subjects/Keywords: DLFT; FTLD; Correlació fenotip-genotip; Correlación fenotipo-genotipo; Phenotype-genotype correlation; Factors genètics associats a DLFT; Factores genéticos asociados a DLFT; Genetics factors associated to FTLD; Ciències de la Salut; 616.8

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APA (6th Edition):

Hernández Ruiz, M. I. (2014). Factores genéticos asociados a la degeneración lobar frontotemporal. Análisis de susceptibilidad genética y correlación fenotipo-genotipo. (Thesis). Universitat Autònoma de Barcelona. Retrieved from http://hdl.handle.net/10803/285735

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Hernández Ruiz, Mª Isabel. “Factores genéticos asociados a la degeneración lobar frontotemporal. Análisis de susceptibilidad genética y correlación fenotipo-genotipo.” 2014. Thesis, Universitat Autònoma de Barcelona. Accessed January 24, 2020. http://hdl.handle.net/10803/285735.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Hernández Ruiz, Mª Isabel. “Factores genéticos asociados a la degeneración lobar frontotemporal. Análisis de susceptibilidad genética y correlación fenotipo-genotipo.” 2014. Web. 24 Jan 2020.

Vancouver:

Hernández Ruiz MI. Factores genéticos asociados a la degeneración lobar frontotemporal. Análisis de susceptibilidad genética y correlación fenotipo-genotipo. [Internet] [Thesis]. Universitat Autònoma de Barcelona; 2014. [cited 2020 Jan 24]. Available from: http://hdl.handle.net/10803/285735.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Hernández Ruiz MI. Factores genéticos asociados a la degeneración lobar frontotemporal. Análisis de susceptibilidad genética y correlación fenotipo-genotipo. [Thesis]. Universitat Autònoma de Barcelona; 2014. Available from: http://hdl.handle.net/10803/285735

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

14. Wellington, Erica J. Cystic Fibrosis Carrier Screening: Current Practices and Challenges in Genetic Counseling.

Degree: 2012, Brandeis University

 Professional practice guidelines for cystic fibrosis (CF) carrier screening recommend the use of a 23 mutation panel that identifies couples at risk of having a… (more)

Subjects/Keywords: cystic fibrosis; carrier screening; mutation panels; sequencing; genotype-phenotype correlation; genetic counseling challenges; professional guidelines

…84.8 106 1.58 Counseling about genotype-phenotype correlation when mutations associated… …disorder] 72.8 91 1.44 Counseling about genotype-phenotype correlation when complex… …education materials More exposure during graduate training More genotype-phenotype correlation… …like to see more research and resources related to the genotype-phenotype correlation of non… …how genotype-phenotype correlation information influences reproductive decision-making of… 

Page 1 Page 2 Page 3 Page 4 Page 5 Page 6 Page 7

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APA (6th Edition):

Wellington, E. J. (2012). Cystic Fibrosis Carrier Screening: Current Practices and Challenges in Genetic Counseling. (Thesis). Brandeis University. Retrieved from http://hdl.handle.net/10192/81

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Wellington, Erica J. “Cystic Fibrosis Carrier Screening: Current Practices and Challenges in Genetic Counseling.” 2012. Thesis, Brandeis University. Accessed January 24, 2020. http://hdl.handle.net/10192/81.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Wellington, Erica J. “Cystic Fibrosis Carrier Screening: Current Practices and Challenges in Genetic Counseling.” 2012. Web. 24 Jan 2020.

Vancouver:

Wellington EJ. Cystic Fibrosis Carrier Screening: Current Practices and Challenges in Genetic Counseling. [Internet] [Thesis]. Brandeis University; 2012. [cited 2020 Jan 24]. Available from: http://hdl.handle.net/10192/81.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Wellington EJ. Cystic Fibrosis Carrier Screening: Current Practices and Challenges in Genetic Counseling. [Thesis]. Brandeis University; 2012. Available from: http://hdl.handle.net/10192/81

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation


Freie Universität Berlin

15. Heyden, Benita von. Genotype-Phenotype-Correlation in Wilson´s Disease.

Degree: 2007, Freie Universität Berlin

 This dissertation contains an analysis of a genotype-phenotype-correlation in Wilson´s Disease. Wilson´s Disease is an autosomal recessive disorder which is caused by mutations located in… (more)

Subjects/Keywords: Wilson´s Disease; genotype-phenotype-correlation; spectrum of mutations; Kayser-Fleischer-Ring; H1069Q-mutation; 3402delC-mutation; L708P-mutation; APOE-gene; HFE-gene; 600 Technik, Medizin, angewandte Wissenschaften::610 Medizin und Gesundheit::610 Medizin und Gesundheit

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APA (6th Edition):

Heyden, B. v. (2007). Genotype-Phenotype-Correlation in Wilson´s Disease. (Thesis). Freie Universität Berlin. Retrieved from https://refubium.fu-berlin.de/handle/fub188/13300

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Heyden, Benita von. “Genotype-Phenotype-Correlation in Wilson´s Disease.” 2007. Thesis, Freie Universität Berlin. Accessed January 24, 2020. https://refubium.fu-berlin.de/handle/fub188/13300.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Heyden, Benita von. “Genotype-Phenotype-Correlation in Wilson´s Disease.” 2007. Web. 24 Jan 2020.

Vancouver:

Heyden Bv. Genotype-Phenotype-Correlation in Wilson´s Disease. [Internet] [Thesis]. Freie Universität Berlin; 2007. [cited 2020 Jan 24]. Available from: https://refubium.fu-berlin.de/handle/fub188/13300.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Heyden Bv. Genotype-Phenotype-Correlation in Wilson´s Disease. [Thesis]. Freie Universität Berlin; 2007. Available from: https://refubium.fu-berlin.de/handle/fub188/13300

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

16. Villa Marcos, Olaya. Caracterización de reordenamientos cromosómicos asociados a fenotipo.

Degree: Departament de Ciències Experimentals i de la Salut, 2009, Universitat Pompeu Fabra

 One of the main objectives of Genetics is the establishment of phenotype-genotype correlations. A correct diagnosis facilitates the clinical management of the patient and the… (more)

Subjects/Keywords: variantes estructurales; clonación posicional; anomalía citogenética; correlación genotipo-fenotipo; reordenamiento cromosómico; translocation; marker chromosome; structural variants; cytogenetic aberration; positional cloning; translocación; genotype-phenotype correlation; chromsomal rearrangement; cromosoma marcador; 57; 575

…genes associated to pathology from cytogenetic alterations associated to phenotype is one of… 

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APA (6th Edition):

Villa Marcos, O. (2009). Caracterización de reordenamientos cromosómicos asociados a fenotipo. (Thesis). Universitat Pompeu Fabra. Retrieved from http://hdl.handle.net/10803/7193

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Villa Marcos, Olaya. “Caracterización de reordenamientos cromosómicos asociados a fenotipo.” 2009. Thesis, Universitat Pompeu Fabra. Accessed January 24, 2020. http://hdl.handle.net/10803/7193.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Villa Marcos, Olaya. “Caracterización de reordenamientos cromosómicos asociados a fenotipo.” 2009. Web. 24 Jan 2020.

Vancouver:

Villa Marcos O. Caracterización de reordenamientos cromosómicos asociados a fenotipo. [Internet] [Thesis]. Universitat Pompeu Fabra; 2009. [cited 2020 Jan 24]. Available from: http://hdl.handle.net/10803/7193.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Villa Marcos O. Caracterización de reordenamientos cromosómicos asociados a fenotipo. [Thesis]. Universitat Pompeu Fabra; 2009. Available from: http://hdl.handle.net/10803/7193

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

17. Pérez Poyato, María del Socorro. Espectro clínico-mutacional y estudios de correlación genotipo-fenotipo en la población española afectada de lipofuscinosis neuronal ceroidea.

Degree: 2012, Universitat de Barcelona

 Neuronal ceroid lipofuscinosis (NCLs) is one of the most common groups of progressive neurodegenerative diseases in childhood. Eight disease genes causing NCL in childhood have… (more)

Subjects/Keywords: Malalties neurodegeneratives; Enfermedades neurodegenerativas; Lipofuscinosis neuronal ceroidea (LNCs); Lipofuscinosi neuronal ceroidea (LNCs); Espectro clínico-mutacional; Espectre clínic-mutacional; Correlación genotipo-fenotipo; Correlació genotip-fenotip; Algoritmo diagnóstico; Algoritme diagnòstic; Neuronal ceroid lipofuscinosis (NCLs); Progressive neurodegenerative diseases; Diagnostic algorithm; Correlation genotype-phenotype; Ciències de la Salut; 616.8

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APA (6th Edition):

Pérez Poyato, M. d. S. (2012). Espectro clínico-mutacional y estudios de correlación genotipo-fenotipo en la población española afectada de lipofuscinosis neuronal ceroidea. (Thesis). Universitat de Barcelona. Retrieved from http://hdl.handle.net/10803/84123

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Chicago Manual of Style (16th Edition):

Pérez Poyato, María del Socorro. “Espectro clínico-mutacional y estudios de correlación genotipo-fenotipo en la población española afectada de lipofuscinosis neuronal ceroidea.” 2012. Thesis, Universitat de Barcelona. Accessed January 24, 2020. http://hdl.handle.net/10803/84123.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

MLA Handbook (7th Edition):

Pérez Poyato, María del Socorro. “Espectro clínico-mutacional y estudios de correlación genotipo-fenotipo en la población española afectada de lipofuscinosis neuronal ceroidea.” 2012. Web. 24 Jan 2020.

Vancouver:

Pérez Poyato MdS. Espectro clínico-mutacional y estudios de correlación genotipo-fenotipo en la población española afectada de lipofuscinosis neuronal ceroidea. [Internet] [Thesis]. Universitat de Barcelona; 2012. [cited 2020 Jan 24]. Available from: http://hdl.handle.net/10803/84123.

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

Council of Science Editors:

Pérez Poyato MdS. Espectro clínico-mutacional y estudios de correlación genotipo-fenotipo en la población española afectada de lipofuscinosis neuronal ceroidea. [Thesis]. Universitat de Barcelona; 2012. Available from: http://hdl.handle.net/10803/84123

Note: this citation may be lacking information needed for this citation format:
Not specified: Masters Thesis or Doctoral Dissertation

.