Lv5
1150 积分 2024-02-29 加入
Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes
2天前
已完结
[Features of clinical phenotype and genotype in Alport syndrome: a monocentric study]
29天前
已完结
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
1个月前
已完结
A novel mutation, Y255X, of the ARSB gene in a Chinese family with mucopolysaccharidosis type VI
3个月前
已完结
Mutations in TITF-1 are associated with benign hereditary chorea
3个月前
已完结
[Clinical and genetic analysis of two unrelated patients with Angelman syndrome and novel UBE3A mutations]
5个月前
已完结
Genotype–phenotype characteristics and baseline natural history of Chinese myelin protein zero gene related neuropathy patients
7个月前
已完结
Hyperhomocysteinemia in patients with riboflavin‐responsive multiple acyl‐CoA dehydrogenase deficiency
7个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
8个月前
已完结
Expanding the Genetic and Phenotypic Spectrum of Female Infertility Caused by TUBB8 Mutations
8个月前
已完结
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