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资源简介：
Collection of demographic, clinical minimum dataset, genomic variant interpretation data.
应用场景：
创建时间：
2020-06-25
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Identification of GGC repeat expansion in the NOTCH2NLC gene in amyotrophic lateral sclerosis
Objective To determine whether the GGC repeats in the NOTCH2NLC gene contribute to amyotrophic lateral sclerosis (ALS). Methods In this study, 545 ALS patients and 1305 healthy controls from mainla
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Humanized Foxp2 Accelerates Making Transitions From Declarative to Procedural Learning
Purpose: Foxp2 is the first and for now the only gene connected to speech and language in humans. Two aminoacid substitutions took place in this protein during recent human evolution, after our split
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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
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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
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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
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