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160 积分 2025-01-07 加入
Molecular landscape ofDYSFmutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective
3天前
已完结
White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology
17天前
已完结
Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel
17天前
已完结
Compound Heterozygosity for a Point Mutation and a Deletion Located at Splice Acceptor Sites in the LAMB3 Gene Leads to Generalized Atrophic Benign Epidermolysis Bullosa
17天前
已关闭
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
21天前
已完结
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
22天前
已完结
Comparing Clinical and Genetic Characteristics of De Novo and Inherited COL1A1/COL1A2 Variants in a Large Chinese Cohort of Osteogenesis Imperfecta
1个月前
已完结
Clinical and genetic investigation in patients with permanent congenital hypothyroidism
1个月前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
1个月前
已完结
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