Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
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ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.Clinically relevant copy number variations detected in cerebral palsyA Mouse Model of X-linked Intellectual Disability Associated with Impaired Removal of Histone MethylationCohort profile: cerebral palsy in the Norwegian and Danish birth cohorts (MOBAND-CP).Structure, biochemistry, and biology of PAK kinases.Prevalence and characteristics of autism spectrum disorders in children with cerebral palsy.The genetic basis of cerebral palsy.Deep brain stimulation for dystonia: a novel perspective on the value of genetic testing.De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis.L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.Neurodevelopmental Disorders or Early Death in Siblings of Children With Cerebral Palsy.Progress in pediatrics in 2015: choices in allergy, endocrinology, gastroenterology, genetics, haematology, infectious diseases, neonatology, nephrology, neurology, nutrition, oncology and pulmonology.Whole-exome sequencing of sickle cell disease patients with hyperhemolysis syndrome suggests a role for rare variation in disease predisposition.The α-Tubulin gene TUBA1A in Brain Development: A Key Ingredient in the Neuronal Isotype Blend.A Variant of the Autophagy-Related 5 Gene Is Associated with Child Cerebral Palsy.Whole‑genome scale identification of methylation markers specific for cerebral palsy in monozygotic discordant twins.Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.Cerebral palsy is not a diagnosis: A case report of a novel atlastin-1 mutation.Causes and pathways of cerebral palsy following neonatal encephalopathy in children born at term.Epigenome-wide analysis in newborn blood spots from monozygotic twins discordant for cerebral palsy reveals consistent regional differences in DNA methylation.Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.Epigenetic machine learning: utilizing DNA methylation patterns to predict spastic cerebral palsy.Genomic analysis identifies masqueraders of full-term cerebral palsy.The Future of Molecular Pathology
P2860
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P2860
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
description
2015 nî lūn-bûn
@nan
2015年の論文
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2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
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2015年论文
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2015年论文
@zh-cn
name
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
@ast
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
@en
type
label
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
@ast
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
@en
prefLabel
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
@ast
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
@en
P2093
P2860
P50
P356
P1433
P1476
Whole-exome sequencing points to considerable genetic heterogeneity of cerebral palsy.
@en
P2093
A H MacLennan
B W M van Bon
C Reynolds
G McMichael
H Doddapaneni
J Broadbent
P2860
P2888
P304
P356
10.1038/MP.2014.189
P407
P577
2015-02-10T00:00:00Z
P6179
1051152231