Lv4
478 积分 2025-04-14 加入
Subunits of the translation initiation factor eIF2B are mutant in leukoencephalopathy with vanishing white matter
20小时前
已完结
Bipolar Disorder Type 1 in a 17-Year-Old Girl with Wolfram Syndrome
2天前
已完结
Primary diagnosis of Wolfram syndrome in an adult patient — Case report and description of a novel pathogenic mutation
2天前
已完结
Pathogenic mutations and sequence variants within mitofusin 2 gene in Polish patients with different hereditary motor-sensory neuropathies
2天前
已完结
Mitochondrial GTPase mitofusin 2 mutation in Charcot?Marie?Tooth neuropathy type 2A
2天前
已完结
Perforin defects of primary haemophagocytic lymphohistiocytosis in Japan
3天前
已完结
Whole-genome sequencing reveals genetic backgrounds in Japanese patients with hemophagocytic lymphohistiocytosis treated with the HLH-2004 protocol
3天前
已完结
Genetic and clinical characteristics of primary hemophagocytic lymphohistiocytosis in children
3天前
已完结
Mutation spectrum of the fibrillin‐1 (FBN1) gene in Taiwanese patients with Marfan syndrome
3天前
已完结
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism
4天前
已完结
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