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American Journal of Human Genetics|May 7, 2002
PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneityMarco Tartaglia, Kamini Kalidas, Adam Shaw, et al.
The Journal of Clinical Investigation|April 17, 2025
Deficiency of the Fanconi anemia core complex protein FAAP100 results in severe Fanconi anemiaBenjamin A Harrison, Emma Mizrahi-Powell, John Pappas, et al.
Circulation. Genomic and Precision Medicine|May 18, 2023
Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple LentiginesEmanuele Monda, Aaron Prosnitz, Rossella Aiello, et al.
Blood|June 2, 2005
The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative diseaseChristian P Kratz, Charlotte M Niemeyer, Robert P Castleberry, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2022
Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methodsBart S Ferket, Zach Baldwin, Priyanka Murali, et al.
Nature Communications|January 28, 2018
Distinct epigenetic programs regulate cardiac myocyte development and disease in the human heart in vivoRalf Gilsbach, Martin Schwaderer, Sebastian Preissl, et al.
American Journal of Human Genetics|January 17, 2012
A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndromeViviana Caputo, Luciano Cianetti, Marcello Niceta, et al.
Human Mutation|March 13, 2018
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errorsKathryn B Manheimer, Nihir Patel, Felix Richter, et al.
Circulation. Cardiovascular Genetics|September 12, 2013
Effect of copy number variants on outcomes for infants with single ventricle heart defectsAbigail S Carey, Li Liang, Jonathan Edwards, et al.
Circulation. Arrhythmia and Electrophysiology|February 28, 2024
<i>HRAS</i>-Mutant Cardiomyocyte Model of Multifocal Atrial TachycardiaNelson A Rodríguez, Nihir Patel, Rafael Dariolli, et al.
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