Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
about
The comorbidity of autism with the genomic disorders of chromosome 15q11.2-q13Angelman syndrome: a review of the clinical and genetic aspectsSleep, plasticity and the pathophysiology of neurodevelopmental disorders: the potential roles of protein synthesis and other cellular processes.1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes.Distinct phenotypes distinguish the molecular classes of Angelman syndromeUnderstanding the pathogenesis of Angelman syndrome through animal modelsAngelman syndrome (AS, MIM 105830)Significant transcriptional changes in 15q duplication but not Angelman syndrome deletion stem cell-derived neurons.
P2860
Q24594577-73C6A65B-0F49-4835-9F43-4951EA6E2D5EQ24678174-9C1B6910-56BE-49C7-B2C9-422755372254Q30823493-A67D3890-7078-4769-8E03-353388EAFBD1Q34519257-4099F277-A4DE-4F88-B9BF-8C151CAF21C0Q35436435-B53831E4-E2FE-4AF9-B3A8-006231A13C71Q36101992-2BA7D5A0-F474-4A14-80B1-F6C491A48E90Q37489508-B39A90D0-31DD-4D6A-BD89-C31E3379C1BDQ49220418-1ADA0039-41F7-440D-804D-E50F5367DC57
P2860
Angelman syndrome resulting from UBE3A mutations in 14 patients from eight families: clinical manifestations and genetic counselling
description
1999 nî lūn-bûn
@nan
1999 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Angelman syndrome resulting fr ...... ations and genetic counselling
@ast
Angelman syndrome resulting fr ...... ations and genetic counselling
@en
Angelman syndrome resulting fr ...... ations and genetic counselling
@nl
type
label
Angelman syndrome resulting fr ...... ations and genetic counselling
@ast
Angelman syndrome resulting fr ...... ations and genetic counselling
@en
Angelman syndrome resulting fr ...... ations and genetic counselling
@nl
prefLabel
Angelman syndrome resulting fr ...... ations and genetic counselling
@ast
Angelman syndrome resulting fr ...... ations and genetic counselling
@en
Angelman syndrome resulting fr ...... ations and genetic counselling
@nl
P2093
P2860
P1476
Angelman syndrome resulting fr ...... ations and genetic counselling
@en
P2093
J C Delaroziere
J F Mattei
M A Voelckel
P2860
P304
P407
P577
1999-07-01T00:00:00Z