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HGG Advances|July 17, 2023
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defectsJessica X Chong, Matthew Carter Childers, Colby T Marvin, et al.Medrxiv : the Preprint Server for Health Sciences|March 22, 2023
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defectsJessica X Chong, Matthew Carter Childers, Colby T Marvin, et al.Scandinavian Journal of Immunology|December 24, 2021
Determining T and B Cell development by TREC/KREC analysis in primary immunodeficiency patients and healthy controlsGizem Şentürk, Yuk Yin Ng, Sevgi Bilgiç Eltan, et al.Human Genetics|May 25, 2011
A mutation screen in patients with Kabuki syndromeYun Li, Nina Bögershausen, Yasemin Alanay, et al.American Journal of Human Genetics|May 11, 2015
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3Jessica X Chong, Lindsay C Burrage, Anita E Beck, et al.Nature Genetics|November 25, 2014
Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsyCas Simons, Lachlan D Rash, Joanna Crawford, et al.American Journal of Human Genetics|October 27, 2009
Identification of CANT1 mutations in Desbuquois dysplasiaCéline Huber, Bénédicte Oulès, Marta Bertoli, et al.American Journal of Human Genetics|February 9, 2010
Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar SyndromeZafar Iqbal, Pilar Cejudo-Martin, Arjan de Brouwer, et al.Human Mutation|December 23, 2011
Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityPhilip B Daniel, Tim Morgan, Yasemin Alanay, et al.Molecular Genetics & Genomic Medicine|February 6, 2014
Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosisKatharina Keupp, Yun Li, Ibrahim Vargel, et al.Pageof 15