Lv5
1090 积分 2023-01-30 加入
Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population
9小时前
待确认
[The study of gene mutations in unknown refractory viral infection and primary hemophagocytic lymphohistiocytosis]
7天前
已关闭
Mitochondrial disease and endocrine dysfunction
18天前
已完结
A Case Report of Bart Syndrome with Brachydactyly of the Great Toe: A Rare Entity
20天前
已完结
Mitochondrial encephalomyopathy
25天前
已完结
A Novel PEPD Mutation (Prolidase Deficiency) Presenting as Refractory HLH Treated with Bone Marrow Transplant
27天前
已关闭
Dual Oxidase System Genes Defects in Children With Congenital Hypothyroidism
28天前
已关闭
Population-based Screening for Hereditary Colorectal Cancer Variants in Japan
1个月前
已完结
Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4
1个月前
已完结
Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study
1个月前
已完结
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