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Biorxiv : the Preprint Server for Biology|July 10, 2023
High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCsCarolina Gracia-Diaz, Jonathan E Perdomo, Munir E Khan, et al.
American Journal of Medical Genetics. Part A|July 22, 2021
Cleft palate morphology, genetic etiology, and risk of mortality in infants with Robin sequenceTara L Wenger, Jonathan Perkins, Julia Parish-Morris, et al.
HGG Advances|July 21, 2022
Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3Divya Nair, Dong Li, Hannah Erdogan, et al.
HGG Advances|January 20, 2022
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3Divya Nair, Dong Li, Hannah Erdogan, et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|December 4, 2020
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the communityAndrew K Sobering, Dong Li, Jennifer S Beighley, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 7, 2015
Maternal uniparental disomy of chromosome 20: a novel imprinting disorder of growth failureSurabhi Mulchandani, Elizabeth J Bhoj, Minjie Luo, et al.
Nature Communications|July 23, 2014
Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndromeDanielle C Lynch, Timothée Revil, Jeremy Schwartzentruber, et al.
HGG Advances|October 1, 2025
Bi-allelic variants in BCAT1 impair mitochondrial function and are associated with a candidate neurometabolic disorderBrianna L DiSanza, Giulia S Porcari, Livia Sertori Finoti, et al.
American Journal of Medical Genetics. Part A|November 20, 2018
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratomaPatrick R Blackburn, Oscar F Chacon-Camacho, Xilma R Ortiz-González, et al.
American Journal of Human Genetics|April 5, 2016
Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and HypotoniaElizabeth J Bhoj, Dong Li, Margaret Harr, et al.
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