Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
about
A Subset of Autism-Associated Genes Regulate the Structural Stability of Neurons.Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in a Chinese cohort6q22.1 microdeletion and susceptibility to pediatric epilepsy.Comprehensive RNA-Seq expression analysis of sensory ganglia with a focus on ion channels and GPCRs in Trigeminal gangliaMiR-204 is responsible for inherited retinal dystrophy associated with ocular colobomaCopy number variation plays an important role in clinical epilepsy.Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyMolecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.Identifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes.Towards the identification of a genetic basis for Landau-Kleffner syndrome.Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.Genetic Testing in Pediatric Epilepsy.Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.CNVs in Epilepsy.Multiple samples aCGH analysis for rare CNVs detection.Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease.Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.
P2860
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P2860
Application of array comparative genomic hybridization in 102 patients with epilepsy and additional neurodevelopmental disorders.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh-hant
name
Application of array comparati ...... neurodevelopmental disorders.
@en
Application of array comparati ...... neurodevelopmental disorders.
@nl
type
label
Application of array comparati ...... neurodevelopmental disorders.
@en
Application of array comparati ...... neurodevelopmental disorders.
@nl
prefLabel
Application of array comparati ...... neurodevelopmental disorders.
@en
Application of array comparati ...... neurodevelopmental disorders.
@nl
P2093
P2860
P50
P356
P1476
Application of array comparati ...... l neurodevelopmental disorders
@en
P2093
Anetta Jeziorek
Anna Gambin
Barbara Wiśniowiecka-Kowalnik
Dorota Antczak-Marach
Dorota Hoffman-Zacharska
Ewa Bocian
Ewa Obersztyn
Hanna Mazurkiewicz
Kamila Ziemkiewicz
Katarzyna Derwińska
P2860
P304
P356
10.1002/AJMG.B.32081
P577
2012-07-23T00:00:00Z