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Journal of Human Genetics|September 16, 2025
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variantsDibyendu Dutta, Jennifer Black, Daniela Macaya, et al.American Journal of Medical Genetics. Part A|July 7, 2025
Neuroaxonal Dystrophy With Osteopetrosis Associated With a Novel Biallelic Nonsense Homozygous Variant in BORCS5Yael Fisher, Orli Greenberg, Patrick Shannon, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 17, 2004
Family communication about positive BRCA1 and BRCA2 genetic test resultsBobbi McGivern, Jessica Everett, Geoffrey G Yager, et al.HGG Advances|December 19, 2024
A recurrent variant in PPP2R5C identified in individuals with macrocephaly, intellectual disability, and seizuresAlison M Muir, Adi Reich, Fanggeng Zou, et al.Prenatal Diagnosis|June 17, 2025
Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch SyndromeLaurence Sophie Carmant, Elka Miller, David Chitayat, et al.Journal of Medical Genetics|January 16, 2026
Clinical manifestations of chromosome 19p13.11 duplicationDibyendu Dutta, Megan Keeney, Nicole Matthews, et al.Journal of Medical Genetics|February 4, 2025
Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3Dibyendu Dutta, Jennifer Black, Emily A Montoya, et al.HGG Advances|November 27, 2024
MGA-related syndrome: A proposed novel disorderBobbi McGivern, Michelle M Morrow, Erin Torti, et al.The British Journal of Dermatology|July 15, 2024
A gain-of-function variant in SREBF1 causes generalized skin hyperpigmentation with congenital cataractsHuijun Wang, Yuan Wu, Jennifer A Bassetti, et al.Medrxiv : the Preprint Server for Health Sciences|February 27, 2026
Shared and distinct phenotypic profiles among neurodevelopmental disorder genesHermela Shimelis, Matthew T Oetjens, Bobbi McGivern, et al.Pageof 2