Lv3
250 积分 2021-02-27 加入
A recurrent de novo damaging variant in EMP2 causes progressive symmetric erythrokeratoderma
1天前
待确认
CGG repeat expansion in LOC642361/NUTM2B-AS1 typically presents as oculopharyngodistal myopathy
1天前
已完结
Rare-variant association studies: When are aggregation tests more powerful than single-variant tests?
3天前
求助中
ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphoma
4天前
已完结
Aberrant lysosomal dynamics disrupt myogenesis via mTORC1 signalling in X-linked myotubular myopathy
7天前
已完结
Rare-variant association studies: When are aggregation tests more powerful than single-variant tests?
7天前
已关闭
Variants in DENND2B are associated with vulnerability for neurodevelopmental impairment, psychosis and catatonia
8天前
已完结
Magnetic resonance imaging and spectroscopy in hypomyelinating leukodystrophy
15天前
已完结
VITAMIN B12 DEFICIENCY AS A WORLDWIDE PROBLEM
18天前
已完结
AAVrh.10 Delivery of Novel APOE2-Christchurch Variant Suppresses Amyloid and Tau Pathology in Alzheimer’s Disease Mice
18天前
已完结
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