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380 积分 2024-02-26 加入
Silver-Russell Syndrome in 2025: Is It Still a Distinct Diagnostic Entity?
3天前
求助中
Silver-Russell Syndrome – Part I: Clinical Characteristics and Genetic Background
3天前
求助中
Phenotypic and molecular features of Thai patients with primary carnitine deficiency
15天前
已完结
Germ lineDDX41mutations define a unique subtype of myeloid neoplasms
23天前
已完结
Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene
1个月前
已完结
Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A
1个月前
已完结
Phenotype and genetic analysis of data collected within the first year of NeuroDev
1个月前
已完结
Transition to glycerol phenylbutyrate for the management of urea cycle disorders: clinical experiences
1个月前
已完结
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India
1个月前
已完结
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy
1个月前
已完结
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