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80 积分 2026-04-10 加入
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
6小时前
待确认
Oxford nanopore sequencing-based assay for BTD gene screening: Design, clinical validation, and variant frequency assessment in the Turkish population
5天前
已完结
Broad spectrum of phenotype and genotype in Korean α-dystroglycan related muscular dystrophy presenting to a tertiary pediatric neuromuscular center
13天前
已完结
DYNC2H1 splicing variants causing severe prenatal short‐rib polydactyly syndrome and postnatal orofaciodigital syndrome
13天前
已完结
Comprehensive Analysis of GJB2 and GJB6 Mutations in Indian Newborns: Largest Single—Centre Carrier Frequency Study from Pune, India
14天前
已完结
Genetic findings in patients with primary fibrotic atrial cardiomyopathy
20天前
已完结
Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy
20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
20天前
已完结
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
28天前
已完结
Evaluation of clinical and genetic characteristics of cystic fibrosis patients in the Southeastern Anatolia of Turkey
1个月前
已完结
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