Showing results (41-50 of 65) with videos related to
Sort By:
Pageof 7
American Journal of Medical Genetics. Part A|July 14, 2019
GATA6 mutations: Characterization of two novel patients and a comprehensive overview of the GATA6 genotypic and phenotypic spectrumDoris Škorić-Milosavljević, Fleur V Y Tjong, Julien Barc, et al.Genetics in Medicine Open|January 17, 2024
Biallelic variants in the calpain regulatory subunit CAPNS1 cause pulmonary arterial hypertensionAlex V Postma, Christina K Rapp, Katrin Knoflach, et al.Circulation. Genomic and Precision Medicine|October 26, 2018
Whole-Exome Sequencing Identifies Pathogenic Variants in TJP1 Gene Associated With Arrhythmogenic CardiomyopathyMarzia De Bortoli, Alex V Postma, Giulia Poloni, et al.Journal of Molecular and Cellular Cardiology|November 20, 2018
Flotillins in the intercalated disc are potential modulators of cardiac excitabilityElise L Kessler, Leonie van Stuijvenberg, Joanne J A van Bavel, et al.Genome Medicine|October 14, 2024
A validated heart-specific model for splice-disrupting variants in childhood heart diseaseRobert Lesurf, Jeroen Breckpot, Jade Bouwmeester, et al.Human Molecular Genetics|November 28, 2022
PRDM10 directs FLCN expression in a novel disorder overlapping with Birt-Hogg-Dubé syndrome and familial lipomatosisIrma van de Beek, Iris E Glykofridis, Jan C Oosterwijk, et al.Journal of the American College of Cardiology|August 23, 2014
HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathyAnnalisa Milano, Alexa M C Vermeer, Elisabeth M Lodder, et al.Journal of Human Genetics|January 4, 2023
Familial multiple discoid fibromas is linked to a locus on chromosome 5 including the FNIP1 geneIrma van de Beek, Iris E Glykofridis, Michael W T Tanck, et al.The Journal of Clinical Investigation|September 13, 2019
Loss-of-function variants in myocardin cause congenital megabladder in humans and miceArjan C Houweling, Glenda M Beaman, Alex V Postma, et al.European Journal of Heart Failure|November 5, 2016
Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathyJoeri A Jansweijer, Karin Nieuwhof, Francesco Russo, et al.Pageof 7