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Andrew H Sinclair

Showing results (111-120 of 122) with videos related to

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Molecular Genetics & Genomic Medicine|January 22, 2020
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex developmentJocelyn A van den Bergen, Gorjana Robevska, Stefanie Eggers, et al.
European Journal of Human Genetics : EJHG|October 28, 2021
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causesElena J Tucker, Katrina M Bell, Gorjana Robevska, et al.
Human Mutation|October 14, 2017
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex developmentGorjana Robevska, Jocelyn A van den Bergen, Thomas Ohnesorg, et al.
Human Genetics|May 14, 2020
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)Elena J Tucker, Rocio Rius, Sylvie Jaillard, et al.
Molecular Human Reproduction|July 8, 2020
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermiaSylvie Jaillard, Kenneth McElreavy, Gorjana Robevska, et al.
Human Genetics|May 6, 2023
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiencyShabnam Bakhshalizadeh, Daniella H Hock, Nicole A Siddall, et al.
The Journal of Clinical Endocrinology and Metabolism|September 8, 2022
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic InsightsElena J Tucker, Megan J Baker, Daniella H Hock, et al.
Maturitas|October 10, 2020
New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencingSylvie Jaillard, Katrina Bell, Linda Akloul, et al.
Nature Communications|June 15, 2023
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsKatie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
Nature Communications|June 9, 2023
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsKatie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
Pageof 13

Showing results (111-120 of 122) with videos related to

Sort By:
Pageof 13
Molecular Genetics & Genomic Medicine|January 22, 2020
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex developmentJocelyn A van den Bergen, Gorjana Robevska, Stefanie Eggers, et al.
European Journal of Human Genetics : EJHG|October 28, 2021
Meiotic genes in premature ovarian insufficiency: variants in HROB and REC8 as likely genetic causesElena J Tucker, Katrina M Bell, Gorjana Robevska, et al.
Human Mutation|October 14, 2017
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex developmentGorjana Robevska, Jocelyn A van den Bergen, Thomas Ohnesorg, et al.
Human Genetics|May 14, 2020
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)Elena J Tucker, Rocio Rius, Sylvie Jaillard, et al.
Molecular Human Reproduction|July 8, 2020
STAG3 homozygous missense variant causes primary ovarian insufficiency and male non-obstructive azoospermiaSylvie Jaillard, Kenneth McElreavy, Gorjana Robevska, et al.
Human Genetics|May 6, 2023
Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiencyShabnam Bakhshalizadeh, Daniella H Hock, Nicole A Siddall, et al.
The Journal of Clinical Endocrinology and Metabolism|September 8, 2022
Premature Ovarian Insufficiency in CLPB Deficiency: Transcriptomic, Proteomic and Phenotypic InsightsElena J Tucker, Megan J Baker, Daniella H Hock, et al.
Maturitas|October 10, 2020
New insights into the genetic basis of premature ovarian insufficiency: Novel causative variants and candidate genes revealed by genomic sequencingSylvie Jaillard, Katrina Bell, Linda Akloul, et al.
Nature Communications|June 15, 2023
Author Correction: Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsKatie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
Nature Communications|June 9, 2023
Variants in SART3 cause a spliceosomopathy characterised by failure of testis development and neuronal defectsKatie L Ayers, Stefanie Eggers, Ben N Rollo, et al.
Pageof 13