Lv3
390 积分 2024-02-26 加入
Three Korean patients with maple syrup urine disease: four novel mutations in the BCKDHA gene
5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
6天前
已完结
Phenotype and genetic analysis of data collected within the first year of NeuroDev
7天前
已完结
Transition to glycerol phenylbutyrate for the management of urea cycle disorders: clinical experiences
13天前
已完结
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India
18天前
已完结
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy
21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
25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
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis
2个月前
已完结
皖公网安备34019202002308
