Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
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Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesInvestigation of 15q11-q13, 16p11.2 and 22q13 CNVs in autism spectrum disorder Brazilian individuals with and without epilepsy.Copy number variation plays an important role in clinical epilepsy.Characterisation of CASPR2 deficiency disorder--a syndrome involving autism, epilepsy and language impairment.Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsyAdvances in epilepsy genetics and genomics.Assessment of copy number variations in 120 patients with Poland syndrome.Atypical face shape and genomic structural variants in epilepsy.Integrated network analysis reveals potentially novel molecular mechanisms and therapeutic targets of refractory epilepsies.Epilepsy and Other Neuropsychiatric Manifestations in Children and Adolescents with 22q11.2 Deletion Syndrome.Novel GABRG2 mutations cause familial febrile seizuresGenetic forms of epilepsies and other paroxysmal disordersIdentifying CNVs in 15q11q13 and 16p11.2 of Patients with Seizures Increases the Rates of Detecting Pathogenic Changes.Epilepsy as a systemic condition: Link with somatic comorbidities.Prevalence of Pathogenic Copy Number Variation in Adults With Pediatric-Onset Epilepsy and Intellectual Disability.Copy number variations and susceptibility to lateral temporal epilepsy: a study of 21 pedigrees.Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.Global characterization of copy number variants in epilepsy patients from whole genome sequencing.Copy number variations in children with brain malformations and refractory epilepsy.Chromosomal microaberrations in patients with epilepsy, intellectual disability, and congenital anomalies.The genetic landscape of infantile spasms
P2860
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P2860
Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年学术文章
@wuu
2011年学术文章
@zh-cn
2011年学术文章
@zh-hans
2011年学术文章
@zh-my
2011年学术文章
@zh-sg
2011年學術文章
@yue
2011年學術文章
@zh
2011年學術文章
@zh-hant
name
Clinical significance of rare ...... arative genomic hybridization.
@en
Clinical significance of rare ...... arative genomic hybridization.
@nl
type
label
Clinical significance of rare ...... arative genomic hybridization.
@en
Clinical significance of rare ...... arative genomic hybridization.
@nl
prefLabel
Clinical significance of rare ...... arative genomic hybridization.
@en
Clinical significance of rare ...... arative genomic hybridization.
@nl
P2093
P50
P1433
P1476
Clinical significance of rare ...... arative genomic hybridization.
@en
P2093
Amedeo Bianchi
Angela Robbiano
Antonietta Coppola
Antonio Falace
Carlo Minetti
Cristina Molinatto
Edoardo Ferlazzo
Elisabetta Gazzerro
Franca Dagna Bricarelli
Giovanni Battista Ferrero
P304
P356
10.1001/ARCHNEUROL.2011.1999
P50
P577
2011-11-14T00:00:00Z