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40 积分 2025-08-23 加入
Molecular analysis and novel variation identification of Chinese pedigrees with mucopolysaccharidosis using targeted next-generation sequencing
8天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
17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
18天前
已完结
von Willebrand factor variants in C3 glomerulopathy: A Chinese cohort study
19天前
已完结
Exon location of glycine substitutions impacts kidney survival in autosomal dominant Alport syndrome
20天前
已完结
Clinical, histological and molecular characteristics of Alport syndrome in Chinese children
20天前
已完结
Abnormal H3K4 enzyme catalytic activity and neuronal morphology caused by ASH1L mutations in individuals with Tourette syndrome
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
Targeted Next-Generation Sequencing Successfully Detects Causative Genes in Chinese Patients with Hereditary Hearing Loss
1个月前
已完结
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