অনুসন্ধান ফলাফলগুলি - Atteeq U. Rehman
- প্রদর্শন 1 - 18 ফলাফল এর 18
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Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79 অনুযায়ী Atteeq U. 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
প্রকাশিত 2010Artigo -
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Mutations of <i><scp>SGO2</scp></i> and <i><scp>CLDN14</scp></i> collectively cause coincidental Perrault syndrome অনুযায়ী Rabia Faridi, Atteeq U. Rehman, Robert J. Morell, Penelope L. Friedman, Leigh Demain, S.T. ZAHRA, Asma A. Khan, Dalia Tohlob, Muhammad Zaman Khan Assir, Glenda M. Beaman, S. N. Khan, William G. Newman, Saima Riazuddin, Thomas B. Friedman
প্রকাশিত 2016Artigo -
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Genetic causes of moderate to severe hearing loss point to modifiers অনুযায়ী Sadaf Naz, Imtiaz Ahmed, Ghulam Mujtaba, Arfa Maqsood, Rasheeda Bashir, Ihtisham Bukhari, Muhammad Riaz Khan, Memoona Ramzan, A. Fatima, Atteeq U. Rehman, Muhammad Faisal Iqbal, Taimur Chaudhry, Michael Lund, Carmen C. Brewer, Robert J. Morell, Thomas B. Friedman
প্রকাশিত 2016Artigo -
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Mutational Spectrum of<i>MYO15A</i>and the Molecular Mechanisms of DFNB3 Human Deafness অনুযায়ী Atteeq U. Rehman, Jonathan E. Bird, Rabia Faridi, Mohsin Shahzad, Sujay Shah, Kwanghyuk Lee, Shaheen N. Khan, Ayesha Imtiaz, Zubair M. Ahmed, Saima Riazuddin, Regie Lyn P. Santos‐Cortez, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Thomas B. Friedman
প্রকাশিত 2016Artigo -
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Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease অনুযায়ী Thomas Hays, Rebecca Hernan, Michele Disco, Emily Griffin, Nimrod Goldshtrom, Diana Vargas, Ganga Krishnamurthy, Miles Bomback, Atteeq U. Rehman, Amanda Thomas‐Wilson, Saurav Guha, Shruti Phadke, Volkan Okur, Dino Robinson, Vanessa Felice, Avinash Abhyankar, Vaidehi Jobanputra, Wendy K. Chung
প্রকাশিত 2023Artigo -
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Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74 অনুযায়ী Zubair M. Ahmed, Rizwan Yousaf, Byung Cheon Lee, Shaheen N. Khan, Sue Lee, Kwanghyuk Lee, Tayyab Husnain, Atteeq U. Rehman, Sarah Bonneux, Muhammad Ansar, Wasim Ahmad, Suzanne M. Leal, Vadim N. Gladyshev, Inna A. Belyantseva, Guy Van Camp, Sheikh Riazuddin, Thomas B. Friedman, Saima Riazuddin
প্রকাশিত 2010Artigo -
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Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p অনুযায়ী Atteeq U. Rehman, Khitab Gul, Robert J. Morell, Kwanghyuk Lee, Zubair M. Ahmed, Saima Riazuddin, Rana A. Ali, Mohsin Shahzad, Ateeq-ul Jaleel, Paula B. Andrade, Shaheen N. Khan, Saadullah Khan, Carmen C. Brewer, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Thomas B. Friedman
প্রকাশিত 2011Artigo -
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Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection অনুযায়ী Wenjun Zhou, Yanlin He, Atteeq U. Rehman, Yan Kong, Sungguan Hong, Guolian Ding, Hari Krishna Yalamanchili, Ying‐Wooi Wan, Paul Basil, Chuhan Wang, Yingyun Gong, Wenxian Zhou, Hao Liu, John Dean, Emmanuel Scalais, Mary O’Driscoll, Jenny E.V. Morton, Xinguo Hou, Qi Wu, Qingchun Tong, Zhandong Liu, Pengfei Liu, Yong Xu, Zheng Sun
প্রকাশিত 2019Artigo -
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Best practices for the interpretation and reporting of clinical whole genome sequencing অনুযায়ী Christina Austin‐Tse, Vaidehi Jobanputra, Denise Perry, David Bick, Ryan J. Taft, Eric Venner, Richard A. Gibbs, Edwin J. Young, Sarah Barnett, John W. Belmont, Nicole J. Boczek, Shimul Chowdhury, Katarzyna A. Ellsworth, Saurav Guha, Shashikant Kulkarni, Cherisse A. Marcou, Linyan Meng, David R. Murdock, Atteeq U. Rehman, Elizabeth Spiteri, Amanda Thomas‐Wilson, Hutton M. Kearney, Heidi L. Rehm
প্রকাশিত 2022Revisão -
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TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing অনুযায়ী Tatsuya Katsuno, Inna A. Belyantseva, Alexander X. Cartagena‐Rivera, Keisuke Ohta, Shawn M. Crump, Ronald S. Petralia, Kazuya Ono, Risa Tona, Ayesha Imtiaz, Atteeq U. Rehman, Hiroshi Kiyonari, Mari Kaneko, Yaxian Wang, Takaya Abe, Makoto Ikeya, Cristina Fenollar‐Ferrer, Gavin P. Riordan, Elisabeth A. Wilson, Tracy S. Fitzgerald, Kohei Segawa, Koichi Omori, Juichi Ito, Gregory I. Frolenkov, Thomas B. Friedman, Shin‐ichiro Kitajiri
প্রকাশিত 2019Artigo -
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Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86 অনুযায়ী Atteeq U. Rehman, Regie Lyn P. Santos‐Cortez, Robert J. Morell, Meghan C. Drummond, Taku Ito, Kwanghyuk Lee, Asma A. Khan, Muhammad Asim Raza Basra, Naveed Wasif, Muhammad Ayub, Rana A. Ali, Syed Irfan Raza, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Saima Riazuddin, Neil Billington, Shaheen N. Khan, Penelope L. Friedman, Andrew J. Griffith, Wasim Ahmad, Sheikh Riazuddin, Suzanne M. Leal, Thomas B. Friedman
প্রকাশিত 2014Artigo -
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Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2 অনুযায়ী Regie Lyn P. Santos‐Cortez, Rabia Faridi, Atteeq U. Rehman, Kwanghyuk Lee, Muhammad Ansar, Xin Wang, Robert J. Morell, Rivka L. Isaacson, Inna A. Belyantseva, Hang Dai, Anushree Acharya, Tanveer Ahmed Qaiser, Dost Muhammad, Rana Amjad Ali, Sulaiman Shams, Muhammad Jawad Hassan, Shaheen Shahzad, Syed Irfan Raza, Zil-e-Huma Bashir, Joshua D. Smith, Deborah A. Nickerson, Michael J. Bamshad, Sheikh Riazuddin, Wasim Ahmad, Thomas B. Friedman, Suzanne M. Leal
প্রকাশিত 2016Artigo -
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CDC14A phosphatase is essential for hearing and male fertility in mouse and human অনুযায়ী Ayesha Imtiaz, Inna A. Belyantseva, Alisha Beirl, Cristina Fenollar‐Ferrer, Rasheeda Bashir, Ihtisham Bukhari, Amal Bouzid, Uzma Shaukat, Héla Azaiez, Kevin T. Booth, Kimia Kahrizi, Hossein Najmabadi, Azra Maqsood, Elizabeth Wilson, Tracy S. Fitzgerald, Abdelaziz Tlili, Rafal T. Olszewski, Merete Lund, Taimur Chaudhry, Atteeq U. Rehman, Matthew F. Starost, Ali Muhammad Waryah, Michael Hoa, Lijin Dong, Robert J. Morell, Richard J. Smith, Sheikh Riazuddin, Saber Masmoudi, Katie S. Kindt, Sadaf Naz, Thomas B. Friedman
প্রকাশিত 2017Artigo -
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Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss অনুযায়ী Élodie M. Richard, Regie Lyn P. Santos‐Cortez, Rabia Faridi, Atteeq U. Rehman, Kwanghyuk Lee, Mohsin Shahzad, Anushree Acharya, Asma A. Khan, Ayesha Imtiaz, Imen Chakchouk, Christina Takla, Izoduwa Abbe, Maria Rafeeq, Khurram Liaqat, Taimur Chaudhry, Michael J. Bamshad, Deborah A. Nickerson, Isabelle Schrauwen, Shaheen N. Khan, Robert J. Morell, Saba Zafar, Muhammad Ansar, Zubair M. Ahmed, Wasim Ahmad, Sheikh Riazuddin, Thomas B. Friedman, Suzanne M. Leal, Saima Riazuddin
প্রকাশিত 2018Artigo -
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Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients অনুযায়ী Noura S. Abul‐Husn, Priya N. Marathe, Nicole R. Kelly, Katherine E. Bonini, Monisha Sebastin, Jacqueline A. Odgis, Avinash Abhyankar, Kaitlyn Brown, Miranda Di Biase, Katie M. Gallagher, Saurav Guha, Nicolette Ioele, Volkan Okur, Michelle A. Ramos, Jessica Rodriguez, Atteeq U. Rehman, Amanda Thomas‐Wilson, Lisa Edelmann, Randi E. Zinberg, George A. Díaz, John M. Greally, Vaidehi Jobanputra, Sabrina A. Suckiel, Carol R. Horowitz, Melissa Wasserstein, Eimear E. Kenny, Bruce D. Gelb
প্রকাশিত 2023Artigo -
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Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease অনুযায়ী Emma M. Jenkinson, Atteeq U. Rehman, Tom Walsh, Jill Clayton‐Smith, Kwanghyuk Lee, Robert J. Morell, Meghan C. Drummond, Shaheen N. Khan, Muhammad Asif Naeem, Bushra Rauf, Neil Billington, Julie M. Schultz, Jill Urquhart, Ming K. Lee, Andrew Berry, Neil A. Hanley, Sarju Mehta, Deirdre Cilliers, Peter Clayton, Helen Kingston, Miriam J. Smith, Thomas T. Warner, Graeme Black, Dorothy Trump, J.R. Davis, Wasim Ahmad, Suzanne M. Leal, Sheikh Riazuddin, Mary‐Claire King, Thomas B. Friedman, William G. Newman
প্রকাশিত 2013Artigo -
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Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42 অনুযায়ী Guntram Borck, Atteeq U. Rehman, Kwanghyuk Lee, Hans‐Martin Pogoda, Naseebullah Kakar, Simon von Ameln, Nicolas Grillet, Michael S. Hildebrand, Zubair M. Ahmed, Gudrun Nürnberg, Muhammad Ansar, Sulman Basit, Qamar Javed, Robert J. Morell, Nabilah Nasreen, A. Eliot Shearer, Adeel Ahmad, Kimia Kahrizi, Rehan Sadiq Shaikh, Rana A. Ali, Shaheen N. Khan, Ingrid Goebel, Nicole C. Meyer, William J. Kimberling, Jennifer Webster, Dietrich Stephan, Martin R. Schiller, Melanie Bahlo, Hossein Najmabadi, Peter G. Gillespie, Peter Nürnberg, Bernd Wollnik, Saima Riazuddin, Richard J. Smith, Wasim Ahmad, Ulrich Müller, Matthias Hammerschmidt, Thomas B. Friedman, Sheikh Riazuddin, Suzanne M. Leal, Jamil Ahmad, Christian Kubisch
প্রকাশিত 2011Artigo
অনুসন্ধান সাধনীগুলি:
সম্পর্কিত বিষয়
Biology
Genetics
Gene
Medicine
Mutation
Audiology
Hearing loss
DNA sequencing
Cell biology
Computational biology
Environmental health
Phenotype
Population
Allele
Anatomy
Cochlea
Consanguinity
Disease gene identification
Exome
Exome sequencing
Frameshift mutation
Genetic heterogeneity
Genome
Hair cell
Internal medicine
Locus (genetics)
Missense mutation
Neuroscience
Sanger sequencing
Stereocilia (inner ear)