Lv3
390 积分 2024-02-26 加入
Transition to glycerol phenylbutyrate for the management of urea cycle disorders: clinical experiences
2天前
已完结
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India
7天前
已完结
Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy
10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
13天前
已完结
NovelADAMTSL4gene mutations in Chinese patients with isolated ectopia lentis
21天前
已完结
Clinical analysis of five CHD2 gene mutations in Chinese children with epilepsy
27天前
已完结
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis
1个月前
已完结
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory
2个月前
已完结
An induced pluripotent stem cell line (GZHMCi003-A) derived from a fetus with exon 3 heterozygous deletion in RUNX2 gene causing cleidocranial dysplasia
2个月前
已完结
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia
2个月前
已完结
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