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CNKI学位论文(1)
在“
Elsevier电子期刊
”中,
命中:
15
条,耗时:小于0.01 秒
在所有数据库中总计命中:
1
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.
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
3.
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
4.
Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79
作者:
Atteeq Ur Rehman
;
Robert J. Morell
;
Inna A. Belyantseva
;
Shahid Y. Khan
;
Erich T. Boger
;
Mohsin Shahzad
;
Zubair M. Ahmed
;
Saima
Riazuddin
;
Shaheen N. Khan
;
Sheikh
Riazuddin
;
Thomas B. Friedman
刊名:The American Journal of Human Genetics
出版年:2010
5.
Actin-Bundling Protein TRIOBP Forms Resilient Rootlets of Hair Cell Stereocilia Essential for Hearing
作者:
Shin-ichiro Kitajiri
;
Takeshi Sakamoto
;
Inna A. Belyantseva
;
Richard J. Goodyear
;
Ruben Stepanyan
;
Ikuko Fujiwara
;
Jonathan E. Bird
;
Saima
Riazuddin
;
Sheikh
Riazuddin
;
Zubair M. Ahmed
;
Jenny E. Hinsha
刊名:Cell
出版年:2010
6.
Molecular Basis of DFNB73: Mutations of BSND
作者:
Saima
Riazuddin
;
Saima
Anwar
;
Martin Fischer
;
Zubair M. Ahmed
;
Shahid Y. Khan
;
Audrey G.H. Janssen
;
Ahmad U. Zafar
;
Ute Scholl
;
Tayyab Husnain
;
Inna A. Belyantseva
;
Penelope L. Friedman
;
Sheikh
Riazuddin
;
Thomas B. Friedman
;
Christoph Fahlke
刊名:The American Journal of Human Genetics
出版年:2009
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.
Tricellulin Is a Tight-Junction Protein Necessary for Hearing
作者:
Saima
Riazuddin
;
Zubair M. Ahmed
;
Alan S. Fanning
;
Ayala Lagziel
;
Shin-ichiro Kitajiri
;
Khushnooda Ramzan
;
Shaheen N. Khan
;
Parna Chattaraj
;
Penelope L. Friedman
;
James M. Anderson
;
Inna A. Belyantseva
;
Andrew Forge
;
Sheikh
Riazuddin
;
Thomas B. Friedman
刊名:The American Journal of Human Genetics
出版年:2006
10.
Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness
作者:
Saima
Riazuddin
;
Shaheen N. Khan
;
Zubair M. Ahmed
;
Manju Ghosh
;
Kyle Caution
;
Sabiha Nazli
;
Madhulika Kabra
;
Ahmad U. Zafar
;
Kevin Chen
;
Sadaf Naz
;
Anthony Antonellis
;
William J. Pavan
;
Eric D. Green
;
Edward R. Wilcox
;
Penelope L. Friedman
;
Robert J. Morell
;
Sheikh
Riazuddin
;
Thomas B. Friedman
刊名:The American Journal of Human Genetics
出版年:2006
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