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3050 积分 2023-08-28 加入
PROGNOSTIC SIGNIFICANCE OF ACTN3 GENOTYPE IN DUCHENNE MUSCULAR DYSTROPHY: FINDINGS FROM AN ARGENTINE PATIENT COHORT
4天前
已完结
Molecular diagnosis based on comprehensive genetic testing in 800 Chinese families with non‐syndromic inherited retinal dystrophies
5天前
已关闭
Novel de novo mutation in KRT14 underlies a localized form of epidermolysis bullosa simplex
6天前
已完结
Evaluation of denaturing high performance liquid chromatography (DHPLC) for the mutational analysis of the neurofibromatosis type 1 ( NF1 ) gene
22天前
已关闭
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
25天前
已完结
Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients
1个月前
已完结
Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa
1个月前
已完结
Homozygous familial hypercholesterolemia in China: Genetic and clinical characteristics from a real-world, multi-center, cohort study
1个月前
已完结
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