Lv4
444 积分 2024-08-07 加入
Autoimmune neutropenia associated with heterozygous variant of SBDS gene mimicking Shwachman–Bodian–Diamond syndrome
4天前
已完结
Meta-Analysis of Penetrance and Systematic Review on Transition to Disease in Genetic Hypertrophic Cardiomyopathy
9天前
已关闭
Clinical outcomes associated with sarcomere mutations in hypertrophic cardiomyopathy: a meta-analysis on 7675 individuals
9天前
已关闭
Two heterozygous mutations associated with type I protein C deficiency in two Chinese independent families
9天前
已完结
Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye
10天前
已关闭
Three novel mutations of the BCKDHA, BCKDHB and DBT genes in Chinese children with maple syrup urine disease
15天前
已完结
Short stature, brachydactyly and joint contractures associated with novel FBN2 variants in two families
22天前
已完结
Delineation of a new fibrillin-2-opathy with evidence for a role of FBN2 in the pathogenesis of carpal tunnel syndrome
22天前
已完结
Identification of a homozygous variant in ABCG5 by panel sequencing in a Pakistani family with sitosterolemia: Genotype-phenotype correlation and management considerations
1个月前
已完结
Novel mutations in thiazide-sensitive Na-Cl cotransporter gene of patients with Gitelman's syndrome
1个月前
已完结
皖公网安备34019202002308
