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CNKI学位论文(15)
在“
Elsevier电子期刊
”中,
命中:
9
条,耗时:0.0179866 秒
在所有数据库中总计命中:
15
条
1.
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
2.
Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease
作者:
Emma M. Jenkinson
1
;
14
;
Atteeq U. Rehman
2
;
14
;
Tom Walsh
3
;
14
;
Jill Clayton-Smith
1
;
Kwanghyuk
Lee
4
;
Robert J. Morell
2
;
Meghan C. Drummond
2
;
Shaheen N. Khan
5
;
Muhammad Asif Naeem
5
;
Bushra Rauf
5
;
Neil Billington
6
;
Julie M. Schultz
2
;
Jill E. Urquhart
1
;
Ming K.
Lee
3
;
Andrew Berry
7
;
Neil A. Hanley
7
;
Sarju Mehta
8
;
Deirdre Cilliers
9
;
Peter E. Clayton
10
;
Helen Kingston
1
;
Miriam J. Smith
1
;
Thomas T. Warner
11
;
University of Washington Center for Mendelian Genomics
刊名:The American Journal of Human Genetics
出版年:2013
3.
Mutations in KARS, Encoding Lysyl-tRNA Synthetase, Cause Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB89
作者:
Regie?Lyn?P. Santos-Cortez
;
Kwanghyuk
Lee
;
Zahid Azeem
;
Patrick?J. Antonellis
;
Lana?M. Pollock
;
Saadullah Khan
;
Irfanullah
;
Paula?B. Andrade-Elizondo
;
Ilene Chiu
;
Mark?D. Adams
;
Sulman Basit
;
Joshua?D. Smith
;
University of Washington Center?for?Mendelian Genomics
;
Deborah?A. Nickerson
;
Brian?M. McDermott Jr.
;
Wasim Ahmad
;
Suzanne?M. Leal
刊名:The American Journal of Human Genetics
出版年:2013
4.
Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74
作者:
Zubair M. Ahmed
1
;
2
;
10
;
Rizwan Yousaf
1
;
4
;
10
;
Byung Cheon
Lee
3
;
Shaheen N. Khan
4
;
Sue
Lee
5
;
Kwanghyuk
Lee
6
;
Tayyab Husnain
4
;
Atteeq Ur Rehman
4
;
5
;
Sarah Bonneux
7
;
Muhammad Ansar
8
;
Wasim Ahmad
8
;
Suzanne M. Leal
6
;
Vadim N. Gladyshev
3
;
Inna A. Belyantseva
5
;
Guy Van Camp
7
;
Sheikh Riazuddin
9
;
Thomas B. Friedman
5
;
Saima Riazuddin
1
;
2
;
saima.riazuddin@cchmc.org
刊名:The American Journal of Human Genetics
出版年:2011
5.
Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42
作者:
Guntram Borck
1
;
2
;
guntram.borck@uk-koeln.de
;
Atteeq Ur Rehman
3
;
4
;
29
;
Kwanghyuk
Lee
5
;
29
;
Hans-Martin Pogoda
6
;
29
;
Naseebullah Kakar
7
;
29
;
Simon von Ameln
1
;
2
;
8
;
Nicolas Grillet
9
;
Michael S. Hildebrand
10
;
Zubair M. Ahmed
11
;
Gudrun Nü
;
rnberg
2
;
12
;
13
;
Muhammad Ansar
14
;
Sulman Basit
14
;
Qamar Javed
14
;
Robert J. Morell
3
;
Nabilah Nasreen
7
;
A. Eliot Shearer
10
;
Adeel Ahmad
15
;
Kimia Kahrizi
16
;
Rehan S. Shaikh
4
;
17
;
Rana A. Ali
4
;
Shaheen N. Khan
4
;
Ingrid Goebel
1
;
2
;
8
;
Nicole C. Meyer
10
;
William J. Kimberling
18
;
Jennifer A. Webster
19
;
Dietrich A. Stephan
20
;
21
;
22
;
Martin R. Schiller
23
;
Melanie Bahlo
24
;
Hossein Najmabadi
16
;
Peter G. Gillespie
25
;
Peter Nü
;
rnberg
2
;
12
;
13
;
Bernd Wollnik
1
;
2
;
13
;
Saima Riazuddin
26
;
Richard J.H. Smith
10
;
27
;
Wasim Ahmad
14
;
Ulrich Mü
;
ller
9
;
Matthias Hammerschmidt
2
;
6
;
13
;
Thomas B. Friedman
3
;
Sheikh Riazuddin
28
;
Suzanne M. Leal
5
;
Jamil Ahmad
7
;
Christian Kubisch
1
;
2
;
8
;
13
刊名:The American Journal of Human Genetics
出版年:2011
6.
Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment
作者:
Margit Schraders
;
Kwanghyuk
Lee
;
Jaap Oostrik
;
Patrick L.M. Huygen
;
Ghazanfar Ali
;
Lies H. Hoefsloot
;
Joris A. Veltman
;
Frans P.M. Cremers
;
Sulman Basit
;
Muhammad Ansar
;
Cor W.R.J. Cremers
;
Henricus P
刊名:The American Journal of Human Genetics
出版年:2010
7.
Noncoding Mutations of HGF
作者:
Julie M. Schultz
;
Shaheen N. Khan
;
Zubair M. Ahmed
;
Saima Riazuddin
;
Ali M. Waryah
;
Dhananjay Chhatre
;
Matthew F. Starost
;
Barbara Ploplis
;
Stephanie Buckley
;
David Velá
;
squez
;
Madhulika Kabra
;
Kwanghyuk
Lee
;
Muhammad J. Hassan
;
Ghazanfar Ali
;
Muhammad Ansar
;
Manju Ghosh
;
Edward R. Wilcox
;
Wasim
刊名:The American Journal of Human Genetics
出版年:2009
8.
Mutations of ESRRB
作者:
Rob W.J. Collin
;
Ersan Kalay
;
Muhammad Tariq
;
Theo Peters
;
Bert van der Zwaag
;
Hanka Venselaar
;
Jaap Oostrik
;
Kwanghyuk
Lee
;
Zubair M. Ahmed
;
Refik Ç
;
aylan
;
Yun Li
;
Henk A. Spierenburg
;
Erol Eyupoglu
;
Angelien Heister
;
Saima Riazuddin
;
Elif Bahat
;
Muhammad Ansar
;
Selcuk Arslan
;
Bernd Wollnik
;
Ha
刊名:The American Journal of Human Genetics
出版年:2008
9.
A distinct autosomal recessive ataxia maps to chromosome 12in an inbred family from Jordan
作者:
Hatem El-Shanti
;
Azhar Daoud
;
Ammar A. Sadoon
;
Suzanne M. Leal
;
Shan Chen
;
Kwanghyuk
Lee
and Ronald Spiegel
关键词:
Ataxia
;
Action tremor
;
Linkage analysis
;
Atonic seizures
;
Chromosome 12
;
Progressive myoclonus epilepsy
;
Epilepsy
刊名:Brain and Development
出版年:2006
1
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