Development, cognition, and behaviour in Pitt-Hopkins syndrome.
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Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesTranscriptomics of cortical gray matter thickness decline during normal agingParvalbumin cell ablation of NMDA-R1 causes increased resting network excitability with associated social and self-care deficits.Monogenic and chromosomal causes of isolated speech and language impairment.Knockdown of human TCF4 affects multiple signaling pathways involved in cell survival, epithelial to mesenchymal transition and neuronal differentiationCRISPR/Cas9-mediated heterozygous knockout of the autism gene CHD8 and characterization of its transcriptional networks in neurodevelopment.Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription.Transcription factor 4 (TCF4) and schizophrenia: integrating the animal and the human perspective.An adapted walking intervention for a child with Pitt Hopkins syndrome.A case of Pitt-Hopkins syndrome with absence of hyperventilation.The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability.Monogenic disorders that mimic the phenotype of Rett syndrome.Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series.Prioritization of Variants Detected by Next Generation Sequencing According to the Mutation Tolerance and Mutational Architecture of the Corresponding Genes.
P2860
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P2860
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
description
article científic
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article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
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artigo científico
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artikel ilmiah
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artikull shkencor
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artículo científico
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name
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
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type
label
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
@en
prefLabel
Development, cognition, and behaviour in Pitt-Hopkins syndrome.
@en
P2093
P2860
P1476
Development, cognition, and behaviour in Pitt-Hopkins syndrome
@en
P2093
Ingrid D C Van Balkom
Marijke Franssens
Raoul C M Hennekam
P2860
P304
P356
10.1111/J.1469-8749.2012.04339.X
P577
2012-06-19T00:00:00Z