Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.
about
Interpretation of array comparative genome hybridization data: a major challenge.Mechanisms of ring chromosome formation, ring instability and clinical consequences.Somatic genome variations in health and diseaseA Case of Autism with Ring Chromosome 14.A three-step workflow procedure for the interpretation of array-based comparative genome hybridization results in patients with idiopathic mental retardation and congenital anomalies.Prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14.Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations.AutismKB 2.0: a knowledgebase for the genetic evidence of autism spectrum disorder
P2860
Q34075129-E682789E-D7C2-4214-A9CE-2D2899513E08Q34107702-F9CD7E5B-6DE5-452C-B8CF-29F21347DE1EQ34479594-A70A8747-C8A8-45F4-9C50-1787DBB8C0C1Q35842364-47D3A5E3-AD5C-448B-A6C5-AC404D7C9A50Q37782049-F9333B9B-0B86-4E47-B64F-A99D4AC34E0FQ39235404-9ABF0C2C-D341-4B8D-AECB-C16D465A0173Q41066145-A6567B68-D129-431B-9962-5C75598FB56FQ58579338-CA946AE9-47F2-4DD3-B587-5A0B5BB344E1
P2860
Position effect leading to haploinsufficiency in a mosaic ring chromosome 14 in a boy with autism.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
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2008年學術文章
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2008年學術文章
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name
Position effect leading to hap ...... osome 14 in a boy with autism.
@en
Position effect leading to hap ...... osome 14 in a boy with autism.
@nl
type
label
Position effect leading to hap ...... osome 14 in a boy with autism.
@en
Position effect leading to hap ...... osome 14 in a boy with autism.
@nl
prefLabel
Position effect leading to hap ...... osome 14 in a boy with autism.
@en
Position effect leading to hap ...... osome 14 in a boy with autism.
@nl
P2093
P2860
P356
P1476
Position effect leading to hap ...... osome 14 in a boy with autism.
@en
P2093
Connie T Schrander-Stumpel
Dries Castermans
John Wm Creemers
Joris R Vermeesch
Karolien Volders
Koen Devriendt
Wim Jm Van de Ven
P2860
P2888
P304
P356
10.1038/EJHG.2008.71
P577
2008-04-16T00:00:00Z
P6179
1047562782