Lv1
10 积分 2023-11-22 加入
[Clinical and genetic analysis of mucolipidosis in 3 pedigrees and literature review]
8小时前
待确认
Clinical presentation and follow-up of women affected by Brugada syndrome
2天前
已完结
Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene
2天前
求助中
Whole-Exome sequencing and systems biology approaches revealed pathogenicity of compound heterozygote variants of NAGLU gene manifesting developmental regression, brain atrophy, intellectual disability, and ADHD
17天前
已完结
Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity
22天前
已完结
Pedigree investigation, clinical characteristics, and prognosis analysis of haematological disease patients with germline TET2 mutation
24天前
已完结
A complete mutation screen of the ADPKD genes by DHPLC
30天前
已完结
[Clinical phenotypes and genetic study of 2 cases with 22q13 deletion syndrome]
1个月前
已完结
Characteristics of germline mutations in Korean patients with pheochromocytoma/paraganglioma
1个月前
已完结
Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia
1个月前
已完结
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