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Cold Spring Harbor Molecular Case Studies|March 17, 2017
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a <i>TUBB3</i> mutationRonak M Patel, David Liu, Claudia Gonzaga-Jauregui, et al.Cell Reports. Medicine|April 27, 2022
SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loadsAlexandre Bolze, Shishi Luo, Simon White, et al.The New England Journal of Medicine|May 10, 2013
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfectaChristine M Laine, Kyu Sang Joeng, Philippe M Campeau, et al.American Journal of Human Genetics|June 5, 2013
A recurrent PDGFRB mutation causes familial infantile myofibromatosisYee Him Cheung, Tenzin Gayden, Philippe M Campeau, et al.Nature Metabolism|October 13, 2020
Pathogenic variants in actionable MODY genes are associated with type 2 diabetesAmélie Bonnefond, Mathilde Boissel, Alexandre Bolze, et al.American Journal of Human Genetics|January 24, 2012
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndromePhilippe M Campeau, Jaeseung C Kim, James T Lu, et al.Human Mutation|June 27, 2017
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disabilityRonit Marom, Mahim Jain, Lindsay C Burrage, et al.Med (New York, N.Y.)|November 4, 2022
Evidence for SARS-CoV-2 Delta and Omicron co-infections and recombinationAlexandre Bolze, Tracy Basler, Simon White, et al.American Journal of Human Genetics|November 4, 2017
Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures"Chae Syng Lee, He Fu, Nissan Baratang, et al.Plos One|August 11, 2021
Using symptom-based case predictions to identify host genetic factors that contribute to COVID-19 susceptibilityIrene V van Blokland, Pauline Lanting, Anil P S Ori, et al.Pageof 4