Associated Papers
Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.
Li Y et al.
Bmc Medical Genomics, 2024
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 2022
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
modPDZpep: a web resource for structure based analysis of human PDZ-mediated interaction networks.
Sain N et al.
Biology Direct, 2016
First Identification of Compound Heterozygous FKRP Mutations in a Korean Patient with Limb-Girdle Muscular Dystrophy.
Park HJ et al.
Journal of Clinical Neurology (seoul, Korea), 2016
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
Sanchez O et al.
Plos One, 2016
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Lopes LR et al.
Heart (british Cardiac Society), 2015
Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial Cardiomyopathy.
Zhao Y et al.
Biomed Research International, 2015
Combination of genetic screening and molecular dynamics as a useful tool for identification of disease-related mutations: ZASP PDZ domain G54S mutation case.
Fratev F et al.
Journal of Chemical Information and Modeling, 2014
Clinical, pathological, and genetic mutation analysis of sporadic inclusion body myositis in Japanese people.
Cai H et al.
Journal of Neurology, 2012
Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.
Finsterer J
Pediatric Cardiology, 2009
Clinical presentation and genetic analysis of a five generation Chinese family with isolated left ventricular noncompaction.
Xia S et al.
Internal Medicine (tokyo, Japan), 2008
Genetic analysis in patients with left ventricular noncompaction and evidence for genetic heterogeneity.
Xing Y et al.
Molecular Genetics and Metabolism, 2006