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International Journal of Pediatric Endocrinology
|
March 7, 2018
A novel, homozygous mutation in <i>desert hedgehog</i> (<i>DHH</i>) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report
Karen M Rothacker, Katie L Ayers, Dave Tang, et al.
Endocrinology
|
January 26, 2016
Overexpression of Anti-Müllerian Hormone Disrupts Gonadal Sex Differentiation, Blocks Sex Hormone Synthesis, and Supports Cell Autonomous Sex Development in the Chicken
Luke S Lambeth, Kirsten Morris, Katie L Ayers, et al.
Stem Cell Reports
|
November 20, 2020
An In Vitro Differentiation Protocol for Human Embryonic Bipotential Gonad and Testis Cell Development
Ingrid M Knarston, Svenja Pachernegg, Gorjana Robevska, et al.
European Journal of Human Genetics : EJHG
|
August 8, 2014
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1
Stefanie Eggers, Katherine R Smith, Melanie Bahlo, et al.
Human Mutation
|
August 2, 2018
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer
Rajini Sreenivasan, Louisa Ludbrook, Brett Fisher, et al.
Human Mutation
|
October 24, 2018
NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients
Ingrid M Knarston, Gorjana Robevska, Jocelyn A van den Bergen, et al.
Genes
|
November 24, 2022
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency
Brianna L Kline, Sylvie Jaillard, Katrina M Bell, et al.
European Journal of Human Genetics : EJHG
|
November 30, 2022
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
Anne Sophie Neyroud, Joëlle Rudinger-Thirion, Magali Frugier, et al.
Stem Cell Research
|
March 8, 2024
Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines
Lucas G A Ferreira, Mauricio C Cabral-da-Silva, Svenja Pachernegg, et al.
Molecular and Cellular Endocrinology
|
January 9, 2025
Functional analysis of SRY variants in individuals with 46,XY differences of sex development
Firman P Idris, Jocelyn van den Bergen, Gorjana Robevska, et al.
Page
of 13
Search research articles
Search
Showing results (91-100 of 122) with videos related to
Sort By:
Page
of 13
International Journal of Pediatric Endocrinology
|
March 7, 2018
A novel, homozygous mutation in <i>desert hedgehog</i> (<i>DHH</i>) in a 46, XY patient with dysgenetic testes presenting with primary amenorrhoea: a case report
Karen M Rothacker, Katie L Ayers, Dave Tang, et al.
Endocrinology
|
January 26, 2016
Overexpression of Anti-Müllerian Hormone Disrupts Gonadal Sex Differentiation, Blocks Sex Hormone Synthesis, and Supports Cell Autonomous Sex Development in the Chicken
Luke S Lambeth, Kirsten Morris, Katie L Ayers, et al.
Stem Cell Reports
|
November 20, 2020
An In Vitro Differentiation Protocol for Human Embryonic Bipotential Gonad and Testis Cell Development
Ingrid M Knarston, Svenja Pachernegg, Gorjana Robevska, et al.
European Journal of Human Genetics : EJHG
|
August 8, 2014
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1
Stefanie Eggers, Katherine R Smith, Melanie Bahlo, et al.
Human Mutation
|
August 2, 2018
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer
Rajini Sreenivasan, Louisa Ludbrook, Brett Fisher, et al.
Human Mutation
|
October 24, 2018
NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients
Ingrid M Knarston, Gorjana Robevska, Jocelyn A van den Bergen, et al.
Genes
|
November 24, 2022
Integral Role of the Mitochondrial Ribosome in Supporting Ovarian Function: MRPS7 Variants in Syndromic Premature Ovarian Insufficiency
Brianna L Kline, Sylvie Jaillard, Katrina M Bell, et al.
European Journal of Human Genetics : EJHG
|
November 30, 2022
LARS2 variants can present as premature ovarian insufficiency in the absence of overt hearing loss
Anne Sophie Neyroud, Joëlle Rudinger-Thirion, Magali Frugier, et al.
Stem Cell Research
|
March 8, 2024
Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines
Lucas G A Ferreira, Mauricio C Cabral-da-Silva, Svenja Pachernegg, et al.
Molecular and Cellular Endocrinology
|
January 9, 2025
Functional analysis of SRY variants in individuals with 46,XY differences of sex development
Firman P Idris, Jocelyn van den Bergen, Gorjana Robevska, et al.
Page
of 13