Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome.
about
GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeA Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.Memory impairment following right cerebellar infarction: a case study.Altered intra- and interregional synchronization in the absence of the corpus callosum: a resting-state fMRI study.Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features
P2860
Q34207484-E6595BC2-6B83-4B32-91EE-29FCAF2470FBQ36001944-36D9064D-433A-43CB-B580-ECB2AD26C00EQ36891473-D70F2D17-22B1-42AC-8268-743A80A1BD47Q41368463-3FCCFBB6-F1D9-42C7-B139-4F01048950BDQ42361619-A7F1E352-8832-4133-A281-FC609F0D79DEQ48473285-3C8BCC99-1A56-446F-A932-8FBBD18A699AQ52097510-4E1D3AFB-0095-4DFF-91B3-0888D2F0B357Q58700905-5DE385BA-A25D-4CC0-8D20-68FA83A44B83
P2860
Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome.
description
2007 nî lūn-bûn
@nan
2007 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
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
name
Cerebellar cognitive affective ...... tives with Gillespie syndrome.
@ast
Cerebellar cognitive affective ...... tives with Gillespie syndrome.
@en
Cerebellar cognitive affective ...... tives with Gillespie syndrome.
@nl
type
label
Cerebellar cognitive affective ...... tives with Gillespie syndrome.
@ast
Cerebellar cognitive affective ...... tives with Gillespie syndrome.
@en
Cerebellar cognitive affective ...... tives with Gillespie syndrome.
@nl
prefLabel
Cerebellar cognitive affective ...... tives with Gillespie syndrome.
@ast
Cerebellar cognitive affective ...... tives with Gillespie syndrome.
@en
Cerebellar cognitive affective ...... tives with Gillespie syndrome.
@nl
P2093
P1433
P1476
Cerebellar cognitive affective ...... tives with Gillespie syndrome.
@en
P2093
Berten Ceulemans
Jo Verhoeven
Peggy Wackenier
Peter Mariën
Peter P De Deyn
P356
10.1016/J.CORTEX.2005.12.001
P577
2007-11-17T00:00:00Z