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Toshimitsu Suzuki

Nagoya City University
H指数:46
被引数:7,327

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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
De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations
2022-09-014
OAAI
Cross-Disorder Analysis of Genic and Regulatory Copy Number Variations in Bipolar Disorder, Schizophrenia, and Autism Spectrum Disorder
2022-09-0130
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CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate
2022-05-177
OAAI
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals

亚基因不耐受,ClinVar和癫痫: 29,165个人的全外显子组测序研究

2021-06-0143
OAAI
Rare genetic variants in the gene encoding histone lysine demethylase 4C (KDM4C) and their contributions to susceptibility to schizophrenia and autism spectrum disorder
2020-12-0514
OAAI
A recurrentPJA1variant in trigonocephaly and neurodevelopmental disorders
2020-06-1218
OAAI
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals

癫痫患者的超罕见遗传变异: 17,606个体的全外显子组测序研究

2019-08-01186
OAAI
Impaired cortico-striatal excitatory transmission triggers epilepsy

皮质-纹状体兴奋性传递受损引发癫痫

2019-04-2377
OAAI
De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies
2018-11-2821
OAAI
Comparative Analyses of Copy-Number Variation in Autism Spectrum Disorder and Schizophrenia Reveal Etiological Overlap and Biological Insights
2018-09-01176
OAAI
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy
2018-03-1534
OAAI
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality
2017-02-0123
OAAI