Lv54
1118 积分 2023-08-18 加入
Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study
1天前
待确认
Impact of a frequent nearsplice SOD1 variant in amyotrophic lateral sclerosis: optimising SOD1 genetic screening for gene therapy opportunities
1天前
求助中
Birt-Hogg-Dubé Syndrome
8天前
已关闭
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
13天前
已完结
19q13.32 microdeletion syndrome: Three new cases
14天前
已完结
H1n1 Pandemic Planning in a Mental Health Residental Facility
20天前
已关闭
A clinical and genetic overview of 18 years neurofibromatosis type 1 molecular diagnostics in the Netherlands
21天前
已完结
Molecular characterization of a series of 990 index patients with albinism
23天前
已完结
Molecular characterization of a series of 990 index patients with albinism
24天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
24天前
已完结
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