Showing results (241-250 of 627) with videos related to
Sort By:
Pageof 63
Clinical Genetics|November 3, 2010
Cranio-lenticulo-sutural dysplasia associated with defects in collagen secretionSimeon A Boyadjiev, S-D Kim, A Hata, et al.Clinical Genetics|October 26, 2019
Novel variants in CDH2 are associated with a new syndrome including Peters anomalyLinda M Reis, Nathalie S Houssin, Carlos Zamora, et al.Human Genetics|April 1, 1996
Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18qJ E Pellegrino, R E Schnur, L Boghosian-Sell, et al.American Journal of Medical Genetics. Part A|November 11, 2003
Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9Jennifer J D Morrissette, Ayala Laufer-Cahana, Livija Medne, et al.American Journal of Medical Genetics. Part A|June 16, 2021
Expanding the genetic landscape of oral-facial-digital syndrome with two novel genesAlanna Strong, Laurie Simone, Anthony Krentz, et al.Clinical Genetics|October 19, 2007
Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndromeI Wieland, C Weidner, R Ciccone, et al.American Journal of Medical Genetics. Part A|May 10, 2021
Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelinesMindy Li, Jennifer Glass, Xiaoli Du, et al.American Journal of Medical Genetics|October 16, 1996
Blepharo-cheilo-dontic (BCD) syndromeR J Gorlin, H Zellweger, M W Curtis, et al.Journal of the American College of Cardiology|June 23, 2001
Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branchingD B McElhinney, B J Clark, P M Weinberg, et al.American Journal of Medical Genetics|April 1, 1986
Neonatal adrenoleukodystrophy: new cases, biochemical studies, and differentiation from Zellweger and related peroxisomal polydystrophy syndromesR I Kelley, N S Datta, W B Dobyns, et al.Pageof 63