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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.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.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.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.Genome Biology|December 1, 2016
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohortStefanie Eggers, Simon Sadedin, Jocelyn A van den Bergen, et al.Pageof 5