Lv4
610 积分 2024-09-24 加入
A rare case of skeletal dysplasia: biallelic variant in ACAN gene
1天前
已完结
Terminal 14q32.33 deletion: Genotype–phenotype correlation
16天前
已完结
Clinical features of familial amyloid polyneuropathy carrying transthyretin mutations in four Chinese kindreds
18天前
已完结
A Study of Familial Amyloid Polyneuropathy Induced by the TTR Val30Leu Mutation in China
18天前
已完结
Clinical and biochemical characterization of asymptomatic carriers and symptomatic patients with hereditary transthyretin amyloidosis caused by TTR V30L mutation
18天前
已完结
Impact of Genetic Variant Reassessment on the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy Based on the 2010 Task Force Criteria
23天前
已完结
Novel cataract-causing variant c.177dupC in c-MAF regulates the expression of crystallin genes for cell apoptosis via a mitochondria-dependent pathway
1个月前
已完结
Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study
1个月前
已完结
Genetic Basis of Childhood Cardiomyopathy
1个月前
已完结
Diagnostic yield of the chromosomal microarray analysis in turkish patients with unexplained development delay/ıntellectual disability(ID), autism spectrum disorders and/or multiple congenital anomalies and new clinical findings
1个月前
已关闭
皖公网安备34019202002308
