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Journal of Intellectual Disability Research : JIDR|January 17, 2024
Remote assessment of the Penn computerised neurocognitive battery in individuals with 22q11.2 deletion syndromeL K White, N Hillman, K Ruparel, et al.American Journal of Human Genetics|March 16, 2007
Characterization of Potocki-Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotypeLorraine Potocki, Weimin Bi, Diane Treadwell-Deering, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 24, 2024
Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndromeAlanna Strong, Michael E March, Christopher J Cardinale, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 30, 2026
Evidence-based classification of genes implicated in craniosynostosis disorders using the ClinGen curation frameworkEnyonam Edoh, Chloe Mighton, Eleanor Broeren, et al.Journal of Medical Genetics|November 22, 2014
Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndromePaul Kruszka, Dong Li, Margaret H Harr, 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.Cardiology in the Young|September 21, 2017
A vascular endothelial growth factor A genetic variant is associated with improved ventricular function and transplant-free survival after surgery for non-syndromic CHDConstantine D Mavroudis, Daniel Seung Kim, Nancy Burnham, et al.American Journal of Medical Genetics. Part A|June 28, 2013
Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomyJennifer M Kalish, Laura K Conlin, Tricia R Bhatti, et al.Nature Genetics|August 21, 2007
Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2Blake C Ballif, Sara A Hornor, Elizabeth Jenkins, et al.Human Molecular Genetics|February 6, 2009
Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome regionJustine Coppinger, Donna McDonald-McGinn, Elaine Zackai, et al.Pageof 63