Lv3
390 积分 2024-02-26 加入
Germ lineDDX41mutations define a unique subtype of myeloid neoplasms
16小时前
待确认
Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene
8天前
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
9天前
已完结
Phenotype and genetic analysis of data collected within the first year of NeuroDev
10天前
已完结
Transition to glycerol phenylbutyrate for the management of urea cycle disorders: clinical experiences
17天前
已完结
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India
22天前
已完结
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy
25天前
已完结
Clinical and molecular significance of flow cytometric analysis for reactive oxygen species production and residual p67phox expression in p67phox‐deficient chronic granulomatous disease
28天前
已完结
NovelADAMTSL4gene mutations in Chinese patients with isolated ectopia lentis
1个月前
已完结
Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy
1个月前
已完结
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