Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
about
Lamarckian evolution explains human brain evolution and psychiatric disordersDe novo mutations in moderate or severe intellectual disabilityCHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problemsMutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problemsDisruptive CHD8 mutations define a subtype of autism early in developmentCharacterization of a de novo SCN8A mutation in a patient with epileptic encephalopathyZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticityDe novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathiesA SWI/SNF-related autism syndrome caused by de novo mutations in ADNPDe novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndromeTargeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.Exome sequencing reveals new causal mutations in children with epileptic encephalopathiesDe novo mutations in epileptic encephalopathiesXLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencingMolecular Machines Determining the Fate of Endocytosed Synaptic Vesicles in Nerve TerminalsEarly-onset epileptic encephalopathies and the diagnostic approach to underlying causesMolecular pathophysiology and pharmacology of the voltage-sensing module of neuronal ion channelsEpileptic encephalopathies: new genes and new pathwaysSPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing lossCHD2 myoclonic encephalopathy is frequently associated with self-induced seizures.LSD1/KDM1A mutations associated to a newly described form of intellectual disability impair demethylase activity and binding to transcription factorsNew insights into the generation and role of de novo mutations in health and diseaseHuman GRIN2B variants in neurodevelopmental disordersNext-Generation Sequencing in Intellectual DisabilityGenetic basis and detection of unintended effects in genetically modified crop plantsDiscovery of Rare Mutations in Autism: Elucidating Neurodevelopmental MechanismsA homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognitionDe novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and femalesSynaptic, transcriptional and chromatin genes disrupted in autismThe contribution of de novo coding mutations to autism spectrum disorderCole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HBNovel Findings from CNVs Implicate Inhibitory and Excitatory Signaling Complexes in SchizophreniaGene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial featuresA Saccharomyces cerevisiae model reveals in vivo functional impairment of the Ogden syndrome N-terminal acetyltransferase NAA10 Ser37Pro mutantThe biological functions of Naa10 - From amino-terminal acetylation to human diseaseGenetics and genomic medicine in Saudi ArabiaGuidelines for investigating causality of sequence variants in human diseaseA framework for the interpretation of de novo mutation in human diseaseMutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt SignalingDe Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome
P2860
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P2860
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
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2012 nî lūn-bûn
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2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
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2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Range of genetic mutations ass ...... ity: an exome sequencing study
@ast
Range of genetic mutations ass ...... ity: an exome sequencing study
@en
Range of genetic mutations ass ...... ity: an exome sequencing study
@nl
type
label
Range of genetic mutations ass ...... ity: an exome sequencing study
@ast
Range of genetic mutations ass ...... ity: an exome sequencing study
@en
Range of genetic mutations ass ...... ity: an exome sequencing study
@nl
prefLabel
Range of genetic mutations ass ...... ity: an exome sequencing study
@ast
Range of genetic mutations ass ...... ity: an exome sequencing study
@en
Range of genetic mutations ass ...... ity: an exome sequencing study
@nl
P2093
P50
P3181
P1433
P1476
Range of genetic mutations ass ...... ity: an exome sequencing study
@en
P2093
Albrecht Röpke
Alexander M Zink
Andreas Dufke
Angelika Riess
Antje Wiesener
Beate Albrecht
Deborah Bartholdi
Denise Horn
Elisabeth Graf
Eva Wohlleber
P304
P3181
P356
10.1016/S0140-6736(12)61480-9
P407
P50
P577
2012-11-10T00:00:00Z