Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.
about
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genesTruncation of the E3 ubiquitin ligase component FBXO31 causes non-syndromic autosomal recessive intellectual disability in a Pakistani familyMedical genetics and genomic medicine in India: current status and opportunities ahead.Mid1/Mid2 expression in craniofacial development and a literature review of X-linked opitz syndrome.The X-Linked-Intellectual-Disability-Associated Ubiquitin Ligase Mid2 Interacts with Astrin and Regulates Astrin Levels to Promote Cell Division.TRIM proteins and diseases.Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation.Mammalian TRIM67 Functions in Brain Development and Behavior.The Role of the Microtubule Cytoskeleton in Neurodevelopmental Disorders.
P2860
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P2860
Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from India.
description
2013 nî lūn-bûn
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2013年の論文
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2013年論文
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2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
2013年论文
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name
Targeted deep resequencing ide ...... in a large kindred from India.
@en
Targeted deep resequencing ide ...... in a large kindred from India.
@nl
type
label
Targeted deep resequencing ide ...... in a large kindred from India.
@en
Targeted deep resequencing ide ...... in a large kindred from India.
@nl
prefLabel
Targeted deep resequencing ide ...... in a large kindred from India.
@en
Targeted deep resequencing ide ...... in a large kindred from India.
@nl
P2093
P2860
P50
P356
P1433
P1476
Targeted deep resequencing ide ...... in a large kindred from India.
@en
P2093
Gurjit Kaur
Ramesh C Juyal
Thenral S Geetha
P2860
P356
10.1002/HUMU.22453
P577
2013-10-21T00:00:00Z