Lv3
284 积分 2020-11-09 加入
Expanding the phenotypic spectrum of Chromosome 16p13.11 microduplication: A multicentric analysis of 206 patients
18天前
已完结
Clinical heterogeneity and novel pathogenic variants of Chinese patients with neuroacanthocytosis
21天前
已关闭
Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy
21天前
已完结
Clinical, pathological, and genetic characterization in a large Chinese cohort with female dystrophinopathy
21天前
已完结
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
21天前
已完结
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants
22天前
已完结
Overview of clinical, molecular, and therapeutic features of Niemann-Pick disease (types A, B, and C): Focus on therapeutic approaches
24天前
已完结
Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development
24天前
已完结
Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience
24天前
已完结
Serum protein profile analysis in lysosomal storage disorders patients
24天前
已完结
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