about
Disruption of MBD5 contributes to a spectrum of psychopathology and neurodevelopmental abnormalitiesHerpesviruses and chromosomal integrationCopy number variants in obesity-related syndromes: review and perspectives on novel molecular approachesCoordinated chromatin control: structural and functional linkage of DNA and histone methylation.Genetic basis of congenital cardiovascular malformationsUpdate on Kleefstra Syndrome.Disruption of an EHMT1-associated chromatin-modification module causes intellectual disabilityReversible histone methylation regulates brain gene expression and behavior.De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.Epileptogenesis: can the science of epigenetics give us answers?A modified form of diphthamide causes immunotoxin resistance in a lymphoma cell line with a deletion of the WDR85 gene.Molecular diagnosis utility of multiplex ligation-dependent probe amplification.Trypanosoma brucei TIF2 suppresses VSG switching by maintaining subtelomere integrity.Hippocampal dysfunction in the Euchromatin histone methyltransferase 1 heterozygous knockout mouse model for Kleefstra syndrome.Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder.Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes.Behavioral phenotype in the 9q subtelomeric deletion syndrome: a report about two adult patients.Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome.Refining the clinical phenotype of Okur-Chung neurodevelopmental syndrome.9q31.1q31.3 deletion in two patients with similar clinical features: a newly recognized microdeletion syndrome?Hypogonadotropic Hypogonadism and Kleefstra Syndrome due to a Pathogenic Variant in the Gene: An Underrecognized Association
P2860
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P2860
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
2007年论文
@zh
2007年论文
@zh-cn
name
The chromosome 9q subtelomere deletion syndrome.
@en
type
label
The chromosome 9q subtelomere deletion syndrome.
@en
prefLabel
The chromosome 9q subtelomere deletion syndrome.
@en
P356
P1476
The chromosome 9q subtelomere deletion syndrome.
@en
P2093
Douglas R Stewart
Tjitske Kleefstra
P304
P356
10.1002/AJMG.C.30148
P577
2007-11-01T00:00:00Z