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Molecular Genetics & Genomic Medicine|December 17, 2025
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural AnalysesYutaka Furuta, Kimberly M Ezell, Rizwan Hamid, et al.American Journal of Respiratory and Critical Care Medicine|January 22, 2015
Rare variants in RTEL1 are associated with familial interstitial pneumoniaJoy D Cogan, Jonathan A Kropski, Min Zhao, et al.European Journal of Human Genetics : EJHG|July 27, 2023
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delaysMythily Ganapathi, Leticia S Matsuoka, Michael March, et al.American Journal of Respiratory and Critical Care Medicine|November 13, 2014
Extensive phenotyping of individuals at risk for familial interstitial pneumonia reveals clues to the pathogenesis of interstitial lung diseaseJonathan A Kropski, Jason M Pritchett, Donald F Zoz, et al.Nature Genetics|April 16, 2013
Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosisTasha E Fingerlin, Elissa Murphy, Weiming Zhang, et al.American Journal of Respiratory and Critical Care Medicine|April 30, 2019
Resequencing Study Confirms That Host Defense and Cell Senescence Gene Variants Contribute to the Risk of Idiopathic Pulmonary FibrosisCamille Moore, Rachel Z Blumhagen, Ivana V Yang, et al.Pageof 17