Lv1
50 积分 2025-05-19 加入
Genetic landscape of hereditary cardiomyopathies and arrhythmias in China
3天前
已完结
Mutations at the ataxia-telangiectasia locus and clinical phenotypes of A-T patients
1个月前
已完结
Genetic analysis and functional study of a novel ABCG5 mutation in sitosterolemia with hematologic disease
1个月前
已完结
Every CFTR variant counts – Target-capture based next-generation-sequencing for molecular diagnosis in the German CF Registry
1个月前
已完结
Characterisation of heterozygous PMS2 variants in French patients with Lynch syndrome
2个月前
已完结
Newborn screening of maple syrup urine disease and the effect of early diagnosis
2个月前
已完结
A P Gene Mutation (OCA2) Causing Various Phenotypes
2个月前
已关闭
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
2个月前
已完结
Analysis of the HEXA, HEXB, ARSA, and SMPD1 Genes in 68 Iranian Patients
2个月前
已完结
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
3个月前
已完结
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