Lv31
210 积分 2024-02-07 加入
Structural and molecular biology of type I galactosemia: Disease‐associated mutations
2个月前
已完结
[Mutation screening of 433 families with Duchenne/Becker muscular dystrophy]
3个月前
已完结
FDA-approved drug screening in patient-derived organoids demonstrates potential of drug repurposing for rare cystic fibrosis genotypes
3个月前
已完结
First mutation (S340X) in choroideremia gene in a Spanish family. Mutations in brief no. 173. Online
3个月前
已关闭
The Clinical and Molecular Spectrum of GM1 Gangliosidosis
3个月前
已完结
Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease
3个月前
已完结
A Homozygous Nonsense Mutation and a Combination of Two Mutations of the Wilson Disease Gene in Patients with Different Lysyl Oxidase Activities in Cultured Fibroblasts
3个月前
已完结
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias
8个月前
已关闭
Molecular findings in children with inherited intrahepatic cholestasis
9个月前
已完结
Linkage between a new splicing site mutation in theMDR3 aliasABCB4 gene and intrahepatic cholestasis of pregnancy
9个月前
已完结
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