Lv51
960 积分 2023-12-01 加入
De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability
1小时前
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LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
5天前
已完结
Genetic analysis of five pedigrees affected with multiple osteochondromas
11天前
已完结
Mutations of plakophilin-2 in Chinese with arrhythmogenic right ventricular dysplasia/cardiomyopathy
12天前
已完结
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
12天前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
18天前
已完结
Clinicopathological features of titinopathy from a Chinese neuromuscular center
20天前
已完结
Clinical characterization of a patient with CNOT2 haploinsufficiency caused by a de novo partial deletion
21天前
已完结
Analysis of PROC mutations and clinical features in 22 unrelated families with inherited protein C deficiency
22天前
已完结
Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants
26天前
已完结
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