Lv41
580 积分 2025-07-30 加入
SH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
5天前
已完结
Molecular analysis of IDS gene and prenatal diagnosis in a Chinese family with mucopolysaccharidosis type II
9天前
已完结
Newborn screening for mucopolysaccharidosis type II: Lessons learned
9天前
已完结
Phenotypic and genotypic spectra of patients with glucose-6-phosphate dehydrogenase deficiency gene known pathogenic variants: a single-center study
17天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
2个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
2个月前
已完结
Clinical and variant analysis of 15 patients with methylmalonic acidemia
2个月前
已完结
A novel G473A mutation in the glucose‐6‐phosphate dehydrogenase gene
2个月前
已完结
Lysosomal storage disorders: Novel and frequent pathogenic variants in a large cohort of Indian patients of Pompe, Fabry, Gaucher and Hurler disease
2个月前
已关闭
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