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知网期刊论文(19)
在“
Elsevier电子期刊
”中,
命中:
6
条,耗时:小于0.01 秒
在所有数据库中总计命中:
21
条
1.
TBC1D24
mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation
作者:
Zaid Afawi
a
;
afawi@bgu.ac.il
;
Simone Mandelstam
b
;
s.mandelstam@brain.org.au
;
Amos D. Korczyn
c
;
amoskor@post.tau.ac.il
;
Sara Kivity
d
;
sarakv@bezeqint.net
;
Simri Walid
e
;
waleeds@netvision.net.il
;
Adel Shalata
f
;
adel.shalata@gmail.com
;
Karen L. Oliver
g
;
oliverkl@unimelb.edu.au
;
Mark Corbett
h
;
mark.corbett@adelaide.edu.au
;
Jozef Gecz
h
;
i
;
jozef.gecz@adelaide.edu.au
;
Samuel F. Berkovic
g
;
s.berkovic@unimelb.edu.au
;
Graeme D. Jackson
b
;
gjackson@brain.org.au
关键词:
Focal seizures
;
Intellectual disability
;
Genetics
;
Epilepsy
;
Malformation
;
TBC1D24
刊名:Epilepsy Research
出版年:2013
2.
Mutations in
TBC1D24
, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86
作者:
Atteeq聽U. Rehman
;
Regie聽Lyn聽P. Santos-Cortez
;
Robert聽J. Morell
;
Meghan聽C. Drummond
;
Taku Ito
;
Kwanghyuk Lee
;
Asma聽A. Khan
;
Muhammad聽Asim聽R. Basra
;
Naveed Wasif
;
Muhammad Ayub
;
Rana聽A. Ali
;
Syed聽I. Raza
;
University of Washington Center for Mendelian Genomics
;
Deborah聽A. Nickerson
;
Jay Shendure
;
Michael Bamshad
;
Saima Riazuddin
;
Neil Billington
;
Shaheen聽N. Khan
;
Penelope聽L. Friedman
;
Andrew聽J. Griffith
;
et al.
刊名:The American Journal of Human Genetics
出版年:2 January, 2014
3.
Lack of pathogenic mutations in six patients with MMPSI
作者:
Maria Rosaria De Filippo
;
Francesca Rizzo
;
Giovanna Marchese
;
Giorgio Giurato
;
Giovanni Nassa
;
Maria Ravo
;
Roberta Tarallo
;
Erica Pironti
;
Marilena Vecchi
;
Giovanni Crichiutti
;
Giorgio Capizzi
;
Alberto Verrotti
;
Aless
;
ro Weisz
;
Giangennaro Coppola
关键词:
MMPSI
;
Targeted re-sequencing
;
KCNT1
;
PLCB1
;
SCN1A
;
TBC1D24
刊名:Epilepsy Research
出版年:February, 2014
4.
The genetic basis of DOORS syndrome: an exome-sequencing study
作者:
Philippe M Campeau
;
Dalia Kasperaviciute
;
James T Lu
;
Lindsay C Burrage
;
Choel Kim
;
Mutsuki Hori
;
Berkley R Powell
;
Fiona Stewart
;
T锚mis Maria F茅lix
;
Jenneke van den Ende
;
Marzena Wisniewska
;
H眉lya Kayserili
;
Patrick Rump
;
Sheela Nampoothiri
;
Salim Aftimos
;
Antje Mey
;
Lal D V Nair
;
Michael L Begleiter
;
Isabelle De Bie
;
Girish Meenakshi
;
et al.
刊名:Lancet Neurology
出版年:January, 2014
5.
TBC1D24
, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy
作者:
Antonio Falace
;
Fabia Filipello
;
Veronica La Padula
;
Nicola Vanni
;
Francesca Madia
;
Davide De Pietri Tonelli
;
Fabrizio A. de Falco
;
Pasquale Striano
;
Franca Dagna Bricarelli
;
Carlo Minetti
;
Fabio Benf
刊名:The American Journal of Human Genetics
出版年:2010
6.
A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in
TBC1D24
作者:
Mark A. Corbett
;
Melanie Bahlo
;
Lachlan Jolly
;
Zaid Afawi
;
Alison E. Gardner
;
Karen L. Oliver
;
Stanley Tan
;
Amy Coffey
;
John C. Mulley
;
Leanne M. Dibbens
;
Walid Simri
;
Adel Shalata
;
Sara Kivity
;
Graem
刊名:The American Journal of Human Genetics
出版年:2010
1
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