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2020-08-20
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A defect in the ionotropic glutamate receptor 6 gene (GRIK2) causes autosomal recessive mental retardation
Non-syndromic mental retardation is one of the most important unresolved problems in genetic health care. Autosomal forms are far more common than X-linked ones, but in contrast to the latter, they ar
NIAID Data Ecosystem30
Table 1_TUBGCP2 variants cause lissencephaly spectrum disorders: a case report and literature review.docx
BackgroundTUBGCP2 variants are associated with the LIS spectrum disorders, but its pathogenesis remains unclear. To retrospectively analyze the clinical features and genetic information of patients ha
NIAID Data Ecosystem00
Ql23 Ins-11(Tm1053) | 2012-08-01T12:34:12+01:00
This experiment is part of the C.elegans behavioural database . For more information and the complete collection of experiments visit http://movement.openworm.org preview link : http
Zenodo2020-09-19 更新00
Table_1_De Novo Germline Mutations in SEMA5A Associated With Infantile Spasms.docx
Infantile spasm (IS) is an early-onset epileptic encephalopathy that usually presents with hypsarrhythmia on an electroencephalogram with developmental impairment or regression. In this study, whole-e
NIAID Data Ecosystem20
Nl1142 Gpa-8(Pk345)V | 2009-07-14T15:27:10+01:00
This experiment is part of the C.elegans behavioural database . For more information and the complete collection of experiments visit http://movement.openworm.org preview link : http
Zenodo2020-09-19 更新00
