Lv31
380 积分 2026-01-16 加入
Detection of GCDH mutations in five Chinese patients with glutaric acidemia type Ⅰ
3小时前
已完结
Prenatal diagnosis of a fetus with 5p15.33 microdeletion
3天前
已完结
难治性病毒感染和原发噬血细胞性淋巴组织细胞增多症相关基因突变研究
3天前
已完结
Analysis of P gene variations among fourteen patients with oculocutaneous albinism type Ⅱ
6天前
已完结
45，X/46，X，psu idic(X)核型五例
16天前
已完结
Phenotypic and genotypic features of twenty children with classic pantothenate kinase-associated neurodegeneration
18天前
已完结
R202Q homozygosity of Mediterranean fever gene is associated with atypical clinical phenotype of familial Mediterranean fever
1个月前
已关闭
Clinical analysis of seven cases with primary hyperoxaluria type 1 in children
1个月前
已完结
Pathogenicity of Intronic and Synonymous Variants of ATP7B in Wilson Disease
1个月前
已完结
Analysis of 12 cases with methylmalonicacidemia cblA type
2个月前
已完结
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