相关实验视频

Updated: May 21, 2025

Identification of Disease-related Spatial Covariance Patterns using Neuroimaging Data
14:27

Identification of Disease-related Spatial Covariance Patterns using Neuroimaging Data

Published on: June 26, 2013

15.6K

通过数据集成,SYNGAP1相关疾病的临床特征

Jillian L McKee1, Jan H Magielski2, Julie Xian2

  • 1Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA; Epilepsy and Neurodevelopmental Disorders Center (ENDD), Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.

Genetics in medicine : official journal of the American College of Medical Genetics
|March 22, 2025
PubMed
概括

这项研究描述了SYNGAP1疾病症状的纵向进展,揭示了和自闭症的明显的年龄相关模式. 这些发现有助于改善这种遗传神经发育障碍的诊断,预后和临床试验准备.

关键词:
发育性和性脑病变,发育性和性脑病变.电子医疗记录电子医疗记录人类现象型的本体学.神经遗传学 神经遗传学在 SYNGAP1 里面,你会发现一个人.

更多相关视频

Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease04:22

Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease

Published on: May 20, 2024

741
Detection of Disease-associated α-synuclein by Enhanced ELISA in the Brain of Transgenic Mice Overexpressing Human A53T Mutated α-synuclein12:01

Detection of Disease-associated α-synuclein by Enhanced ELISA in the Brain of Transgenic Mice Overexpressing Human A53T Mutated α-synuclein

Published on: May 30, 2015

10.7K

相关概念视频

Autism Spectrum Disorder01:19

Autism Spectrum Disorder

Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
53
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
12.3K