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Human Molecular Genetics|July 10, 2012
An ancient founder mutation in PROKR2 impairs human reproductionMagdalena Avbelj Stefanija, Marc Jeanpierre, Gerasimos P Sykiotis, et al.Human Molecular Genetics|July 5, 2020
TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals network-level interactions between causal lociErica E Davis, Ravikumar Balasubramanian, Zachary A Kupchinsky, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 30, 2022
The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assayMargaret F Lippincott, Wanxue Xu, Abigail A Smith, et al.The Journal of Clinical Endocrinology and Metabolism|February 9, 2020
Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a NoseAngela Delaney, Rita Volochayev, Brooke Meader, et al.Nature Genetics|April 14, 2025
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrumSamvida S Venkatesh, Laura B L Wittemans, Duncan S Palmer, et al.Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Genome-wide analyses identify 21 infertility loci and over 400 reproductive hormone loci across the allele frequency spectrumSamvida S Venkatesh, Laura B L Wittemans, Duncan S Palmer, et al.Nature Genetics|January 10, 2017
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndromeNatalie D Shaw, Harrison Brand, Zachary A Kupchinsky, et al.Pageof 5