Lv41
542 积分 2024-12-18 加入
Primary trimethylaminuria (fish odor syndrome) and hypothyroidism in an adolescent
2天前
已完结
Variants of Flavin-Containing Monooxygenase 3 Found in Subjects in an Updated Database of Genome Resources
2天前
已完结
[Homozygous familial hypobetalipoproteinemia caused by APOB gene variations: a case report and review of literature]
6天前
已完结
SHOX far‐downstream deletion in a patient with nonsyndromic short stature
10天前
已完结
Unusual phenotype of heterozygous LOF mutation in IKZF1, with common variable immunodeficiency presenting initially as immune thrombocytopenia: A case report
12天前
已完结
Niemann-Pick Disease Type B in Traumatic Splenic Rupture
23天前
已完结
Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of Niemann-Pick disease
23天前
已完结
A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease
23天前
已完结
Phenotype and genotype features of 187 patients with spinocerebellar ataxia type 3
25天前
已完结
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency
1个月前
已完结
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