De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

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http://www.wikidata.org/entity/Q30371477
Disorders of Transcriptional Regulation: An Emerging Category of Multiple Malformation SyndromesIntellectual Disability: When the Hypertrichosis Is a ClueTAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological ManifestationsTwo-step ATP-driven opening of cohesin headPathway Analysis Based on a Genome-Wide Association Study of Polycystic Ovary SyndromeBiochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disordersMolecular subtyping and improved treatment of neurodevelopmental disease.A new twist in the coil: functions of the coiled-coil domain of structural maintenance of chromosome (SMC) proteins.A new prognostic index of severity of intellectual disabilities in Cornelia de Lange syndrome.Rare form of autosomal dominant familial Cornelia de Lange syndrome due to a novel duplication in SMC3.Identification of a region in the coiled-coil domain of Smc3 that is essential for cohesin activity.Zebrafish as a Model to Study Cohesin and Cohesinopathies.Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes.Expanding the clinical spectrum of the 'HDAC8-phenotype' - implications for molecular diagnostics, counseling and risk prediction.Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.Thrombocytopenia and Cornelia de Lange syndrome: Still an enigma?
P2860

De novo heterozygous mutations in SMC3 cause a range of Cornelia de Lange syndrome-overlapping phenotypes.

Item
http://www.wikidata.org/entity/Q30371477
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2015 թուականի Մարտին հրատարակուած գիտական յօդուած
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2015 թվականի մարտին հրատարակված գիտական հոդված
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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name
De novo heterozygous mutations ...... ndrome-overlapping phenotypes.
@ast
De novo heterozygous mutations ...... ndrome-overlapping phenotypes.
@en
type
label
De novo heterozygous mutations ...... ndrome-overlapping phenotypes.
@ast
De novo heterozygous mutations ...... ndrome-overlapping phenotypes.
@en
prefLabel
De novo heterozygous mutations ...... ndrome-overlapping phenotypes.
@ast
De novo heterozygous mutations ...... ndrome-overlapping phenotypes.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
De novo heterozygous mutations ...... ndrome-overlapping phenotypes.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698