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J

Judith Weisenberg

harvard university medical affiliates
H指数:14
被引数:1,485

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Pathogenic de novo variants in PPP2R5C cause a neurodevelopmental disorder within the Houge-Janssens syndrome spectrum
2025-02-010
PRE
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

超过29,000名癫痫患者的ghis荟萃分析确定了26个风险基因座和亚型特异性遗传结构

2023-08-3143
OAAI
Severity Assessment in CDKL5 Deficiency Disorder
2019-08-0148
OAAI
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

全基因组巨型分析确定了16个基因座,并突出了常见癫痫的不同生物学机制

2018-12-10293
OAAI
Gain-of-function HCN2 variants in genetic epilepsy
2017-11-1326
OAAI