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Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 22, 2020
Germline variants in HEY2 functional domains lead to congenital heart defects and thoracic aortic aneurysmsEva S van Walree, Gregor Dombrowsky, Iris E Jansen, et al.Nature Communications|March 14, 2019
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactylyNajim Lahrouchi, Aman George, Ilham Ratbi, et al.Genome Medicine|September 18, 2023
Identification of novel genetic risk factors of dilated cardiomyopathy: from canine to humanJulia E Niskanen, Åsa Ohlsson, Ingrid Ljungvall, et al.Human Molecular Genetics|January 9, 2013
Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of FallotHeather J Cordell, Ana Töpf, Chrysovalanto Mamasoula, et al.Circulation Research|December 25, 2018
Whole Exome Sequencing Reveals the Major Genetic Contributors to Nonsyndromic Tetralogy of FallotDonna J Page, Matthieu J Miossec, Simon G Williams, et al.Journal of Cardiovascular Translational Research|June 25, 2026
Tracing the pathogenic PLN p.(Arg14del) variant across the globe; more than just a local curiosityEsmée van Drie, Freyja H M van Lint, Rob Zwart, et al.Nature Genetics|May 28, 2013
Genome-wide association study of multiple congenital heart disease phenotypes identifies a susceptibility locus for atrial septal defect at chromosome 4p16Heather J Cordell, Jamie Bentham, Ana Topf, et al.Circulation. Cardiovascular Genetics|July 24, 2013
Association between C677T polymorphism of methylene tetrahydrofolate reductase and congenital heart disease: meta-analysis of 7697 cases and 13,125 controlsChrysovalanto Mamasoula, R Reid Prentice, Tomasz Pierscionek, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 11, 2021
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of FallotDoris Škorić-Milosavljević, Najim Lahrouchi, Fernanda M Bosada, et al.Plos Genetics|September 21, 2021
Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart diseaseEnrique Audain, Anna Wilsdon, Jeroen Breckpot, et al.Pageof 7