نتائج البحث - Atteeq U. Rehman

  • يعرض 1 - 18 نتائج من 18
تنقيح النتائج
  1. 1
    Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness

    Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness حسب Yoko Nakano, Michael C. Kelly, Atteeq U. Rehman, Erich T. Boger, Robert J. Morell, Matthew W. Kelley, Thomas B. Friedman, Botond Bánfi

    منشور في 2018
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  2. 2
    Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79

    Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79 حسب 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

    منشور في 2010
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  3. 3
    Mutations of <i><scp>SGO2</scp></i> and <i><scp>CLDN14</scp></i> collectively cause coincidental Perrault syndrome

    Mutations of <i><scp>SGO2</scp></i> and <i><scp>CLDN14</scp></i> collectively cause coincidental Perrault syndrome حسب 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

    منشور في 2016
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  4. 4
    Genetic causes of moderate to severe hearing loss point to modifiers

    Genetic causes of moderate to severe hearing loss point to modifiers حسب 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

    منشور في 2016
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  5. 5
    Mutational Spectrum of<i>MYO15A</i>and the Molecular Mechanisms of DFNB3 Human Deafness

    Mutational Spectrum of<i>MYO15A</i>and the Molecular Mechanisms of DFNB3 Human Deafness حسب 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

    منشور في 2016
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  6. 6
    Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease

    Implementation of Rapid Genome Sequencing for Critically Ill Infants With Complex Congenital Heart Disease حسب 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

    منشور في 2023
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  7. 7
    Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74

    Functional Null Mutations of MSRB3 Encoding Methionine Sulfoxide Reductase Are Associated with Human Deafness DFNB74 حسب 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

    منشور في 2010
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  8. 8
    Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p

    Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p حسب 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

    منشور في 2011
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  9. 9
    Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection

    Loss of function of NCOR1 and NCOR2 impairs memory through a novel GABAergic hypothalamus–CA3 projection حسب 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

    منشور في 2019
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  10. 10
    Best practices for the interpretation and reporting of clinical whole genome sequencing

    Best practices for the interpretation and reporting of clinical whole genome sequencing حسب 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

    منشور في 2022
    احصل على النص الكامل احصل على النص الكامل
    Revisão
    أضف إلى المفضلة
    محفوظ في:
  11. 11
    TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing

    TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing حسب 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

    منشور في 2019
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  12. 12
    Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86

    Mutations in TBC1D24, a Gene Associated With Epilepsy, Also Cause Nonsyndromic Deafness DFNB86 حسب 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

    منشور في 2014
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  13. 13
    Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2

    Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2 حسب 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

    منشور في 2016
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  14. 14
    CDC14A phosphatase is essential for hearing and male fertility in mouse and human

    CDC14A phosphatase is essential for hearing and male fertility in mouse and human حسب 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

    منشور في 2017
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  15. 15
    Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss

    Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss حسب 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

    منشور في 2018
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  16. 16
    Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients

    Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients حسب 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

    منشور في 2023
    احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  17. 17
    Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

    Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease حسب 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

    منشور في 2013
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:
  18. 18
    Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42

    Loss-of-Function Mutations of ILDR1 Cause Autosomal-Recessive Hearing Impairment DFNB42 حسب 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

    منشور في 2011
    احصل على النص الكامل احصل على النص الكامل
    Artigo
    أضف إلى المفضلة
    محفوظ في:

أدوات البحث: