Lv61
1690 积分 2023-07-12 加入
Both gain- and loss-of-function variants of KCNA1 are associated with paroxysmal kinesigenic dyskinesia
10天前
已完结
CALHM2 V136G polymorphism reduces astrocytic ATP release and is associated with depressive symptoms and Alzheimer's disease risk
10天前
已完结
Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives
25天前
已完结
[Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene]
28天前
已完结
Development and validation of a novel multiplex digital PCR assay for identification of pathogens in cerebrospinal fluid of children with bacterial meningitis
1个月前
已完结
Molecular pathologies and therapies for Pelizaeus-Merzbacher disease
1个月前
已完结
Microglia replacement halts the progression of microgliopathy in mice and humans
1个月前
已完结
[Chinese expert consensus on allogeneic hematopoietic stem cell transplantation for cerebral adrenoleukodystrophy (2023)]
1个月前
已完结
Imprinting disorders
1个月前
已完结
Population-level insights into repeat-associated ataxias from UK Biobank whole-genome sequencing
2个月前
已完结
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