Lv1
46 积分 2023-04-17 加入
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
2天前
已完结
[Clinical features of dilated cardiomyopathy-like hypertrophic cardiomyopathy caused by a 13261 G > A mutation in cardiac myosin-binding protein C gene]
29天前
已完结
Hypoparathyroidism, neutropenia and nephrotic syndrome in a patient with mitochondrial trifunctional protein deficiency: A case report and review of the literature
1个月前
已完结
Nonclassic Adrenal Hyperplasia (NCAH) due to 21-hydroxylase deficiency: A cohort of 78 patients
2个月前
已完结
[Studies on the clinical manifestation and SLC25A13 gene mutation of Chinese patients with neonatal intrahepatic cholestasis caused by citrin deficiency]
2个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
2个月前
已完结
Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II
2个月前
已完结
[Analysis of 12 cases with methylmalonicacidemia cblA type]
4个月前
已完结
[Genetic analysis of a pedigree with hereditary coagulation factor Ⅶ deficiency]
5个月前
已完结
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