Lv31
227 积分 2023-01-07 加入
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
8天前
已关闭
Clinical and Hormonal Profiles Correlate With Molecular Characteristics in Patients With 11β-Hydroxylase Deficiency
8天前
已完结
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
10天前
已完结
Further survey of genetic variants of flavin-containing monooxygenase 3 (FMO3) in Japanese subjects found in an updated database of genome resources and identified by phenotyping for trimethylaminuria
12天前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
12天前
已完结
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients
13天前
已完结
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening
13天前
已完结
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
14天前
已完结
CACNA1S mutation associated with a case of juvenile-onset congenital myopathy
24天前
已完结
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