A family with a grand-maternally derived interstitial duplication of proximal 15q.
about
Genomic and epigenetic evidence for oxytocin receptor deficiency in autismIdentification of significant association and gene-gene interaction of GABA receptor subunit genes in autismThe comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Cytogenetic abnormalities and fragile-X syndrome in Autism Spectrum DisorderFine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.Maternal immune activation and autism spectrum disorder: interleukin-6 signaling as a key mechanistic pathwayMonogenic and chromosomal causes of isolated speech and language impairment.Genetic factors in congenital diaphragmatic hernia.Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes.Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism.Molecular and Clinical Aspects of Angelman Syndrome.A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism.Clinical and genetic aspects of Angelman syndrome.Autism spectrum disorders: the quest for genetic syndromes.Immune dysregulation in autism spectrum disorder.Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.Three Rett patients with both MECP2 mutation and 15q11-13 rearrangements.Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader-Willi syndrome.Three supernumerary marker chromosomes in a patient with developmental delay, mental retardation, and dysmorphic features.Combined 22q11.1-q11.21 deletion with 15q11.2-q13.3 duplication identified by array-CGH in a 6 years old boyMotor functions and adaptive behaviour in children with childhood apraxia of speech.Familial Kleefstra syndrome due to maternal somatic mosaicism for interstitial 9q34.3 microdeletions.
P2860
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P2860
A family with a grand-maternally derived interstitial duplication of proximal 15q.
description
2001 nî lūn-bûn
@nan
2001年の論文
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2001年学术文章
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2001年学术文章
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2001年学术文章
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2001年学术文章
@zh-hans
2001年学术文章
@zh-my
2001年学术文章
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2001年學術文章
@zh-hant
name
A family with a grand-maternally derived interstitial duplication of proximal 15q.
@en
A family with a grand-maternally derived interstitial duplication of proximal 15q.
@nl
type
label
A family with a grand-maternally derived interstitial duplication of proximal 15q.
@en
A family with a grand-maternally derived interstitial duplication of proximal 15q.
@nl
prefLabel
A family with a grand-maternally derived interstitial duplication of proximal 15q.
@en
A family with a grand-maternally derived interstitial duplication of proximal 15q.
@nl
P2093
P2860
P1433
P1476
A family with a grand-maternally derived interstitial duplication of proximal 15q.
@en
P2093
Driscoll DJ
Stalker HJ
Voeller KS
P2860
P304
P356
10.1034/J.1399-0004.2001.600604.X
P577
2001-12-01T00:00:00Z