Rezultaty - Saima Riazuddin

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  1. 1
    Identities and frequencies of mutations of the otoferlin gene (<i>OTOF</i>) causing DFNB9 deafness in Pakistan

    Identities and frequencies of mutations of the otoferlin gene (<i>OTOF</i>) causing DFNB9 deafness in Pakistan od BY Choi, ZM Ahmed, Saima Riazuddin, MA Bhinder, Mohsin Shahzad, Tayyab Husnain, Saima Riazuddin, AJ Griffith, TB Friedman

    Wydane 2009
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  2. 2
    Replication of the<i>TCF4</i>Intronic Variant in Late-Onset Fuchs Corneal Dystrophy and Evidence of Independence from the<i>FCD2</i>Locus

    Replication of the<i>TCF4</i>Intronic Variant in Late-Onset Fuchs Corneal Dystrophy and Evidence of Independence from the<i>FCD2</i>Locus od Saima Riazuddin, Elyse J. McGlumphy, William S. Yeo, Jiangxia Wang, Nicholas Katsanis, John D. Gottsch

    Wydane 2011
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  3. 3
    Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse

    Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse od Rizwan Yousaf, Chunfang Gu, Zubair M. Ahmed, Shaheen N. Khan, Thomas B. Friedman, Sheikh Riazuddin, Stephen B. Shears, Saima Riazuddin

    Wydane 2018
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  4. 4
    Prevalence and Severity of Fuchs Corneal Dystrophy in Tangier Island

    Prevalence and Severity of Fuchs Corneal Dystrophy in Tangier Island od Allen O. Eghrari, Elyse J. McGlumphy, Benjamin W. Iliff, Jiangxia Wang, David Emmert, Saima Riazuddin, Nicholas Katsanis, John D. Gottsch

    Wydane 2012
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  5. 5
    An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans

    An Alteration in ELMOD3, an Arl2 GTPase-Activating Protein, Is Associated with Hearing Impairment in Humans od Thomas Jaworek, Élodie M. Richard, Anna Ivanova, Arnaud P. J. Giese, Daniel Choo, Shaheen N. Khan, Sheikh Riazuddin, Richard Kahn, Saima Riazuddin

    Wydane 2013
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  6. 6
    SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis

    SLC26A4 mutation spectrum associated with DFNB4 deafness and Pendred's syndrome in Pakistanis od Saima Anwar, Saima Riazuddin, Zubair M. Ahmed, Saba Tasneem, Ateeq-ul-Jaleel, Shahid Y. Khan, Andrew J. Griffith, Thomas B. Friedman, Sheikh Riazuddin

    Wydane 2009
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  7. 7
    Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome

    Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome od Zubair M. Ahmed, Saima Riazuddin, Sandar Aye, Rana A. Ali, Hanka Venselaar, Saima Anwar, Polina P. Belyantseva, Muhammad Qasim, Sheikh Riazuddin, Thomas B. Friedman

    Wydane 2008
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  8. 8
    Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

    Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F od Zubair M. Ahmed, Saima Riazuddin, Steven L. Bernstein, Zahoor Ahmed, Shaheen Khan, Andrew J. Griffith, Robert J. Morell, Thomas B. Friedman, Sheikh Riazuddin, Edward R. Wilcox

    Wydane 2001
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  9. 9
    Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population

    Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population od Thomas Jaworek, Tasleem Kausar, Shannon Bell, Nabeela Tariq, Muhammad Imran Maqsood, Asma Sohail, M. Ali, Furhan Iqbal, Shafqat Rasool, Saima Riazuddin, Rehan Sadiq Shaikh, Zubair M. Ahmed

    Wydane 2012
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  10. 10
    A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family

    A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family od Kunjan Patel, Arnaud P. J. Giese, Jonathan M Grossheim, Rashima S. Hegde, Maria Delio, Joy Samanich, Saima Riazuddin, Gregory I. Frolenkov, Jinlu Cai, Zubair M. Ahmed, Bernice E. Morrow

    Wydane 2015
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  11. 11
    CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function

    CIB2 regulates mTORC1 signaling and is essential for autophagy and visual function od Saumil Sethna, Patrick A. Scott, Arnaud P. J. Giese, Todd Duncan, Xiaoying Jian, Sheikh Riazuddin, Paul A. Randazzo, T. Michael Redmond, Steven L. Bernstein, Saima Riazuddin, Zubair M. Ahmed

    Wydane 2021
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  12. 12
    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 od 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

    Wydane 2010
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  13. 13
    Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC

    Nonsyndromic recessive deafness DFNB18 and Usher syndrome type IC are allelic mutations of USHIC od Zubair M. Ahmed, Tenesha N. Smith, Saima Riazuddin, Tomoko Makishima, Manju Ghosh, Sirosh Bokhari, P.S.N. Menon, Dilip Deshmukh, Andrew J. Griffith, Sheikh Riazuddin, Thomas B. Friedman, Edward R. Wilcox

    Wydane 2002
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  14. 14
    <i>GNAT1</i>Associated with Autosomal Recessive Congenital Stationary Night Blindness

    <i>GNAT1</i>Associated with Autosomal Recessive Congenital Stationary Night Blindness od Muhammad Asif Naeem, Venkata Ramana Murthy Chavali, Shahbaz Ali, Muhammad Iqbal, Saima Riazuddin, Shaheen N. Khan, Tayyab Husnain, Paul A. Sieving, Radha Ayyagari, Sheikh Riazuddin, J. Fielding Hejtmancik, Sheikh Riazuddin

    Wydane 2011
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  15. 15
    Mutations of human TMHS cause recessively inherited non-syndromic hearing loss

    Mutations of human TMHS cause recessively inherited non-syndromic hearing loss od Muhammad Imran Shabbir, Zubair M. Ahmed, Shahid Y. Khan, Saima Riazuddin, Ali Muhammad Waryah, Shaheen N. Khan, Reyna D Camps, Manju Ghosh, Madulika Kabra, Inna A. Belyantseva, Thomas B. Friedman, Sheikh Riazuddin

    Wydane 2006
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  16. 16
    CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness

    CDH23 Mutation and Phenotype Heterogeneity: A Profile of 107 Diverse Families with Usher Syndrome and Nonsyndromic Deafness od Lisa M. Astuto, Julie M. Bork, Michael D. Weston, James W. Askew, Randall R. Fields, Dana J. Orten, S.J. Ohliger, Saima Riazuddin, Robert J. Morell, Shahid Y. Khan, Saima Riazuddin, Hannie Kremer, Peter Van Hauwe, Claes Möller, Cor W. R. J. Cremers, Carmen Ayuso, John R. Heckenlively, Klaus Rohrschneider, U.H. Spandau, Jacquie Greenberg, Raj Ramesar, William Reardon, Pierre Bitoun, Jesús Millán, Richard H. Legge, Thomas B. Friedman, William J. Kimberling

    Wydane 2002
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  17. 17
    Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus

    Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus od Sadaf Naz, Chantal Giguère, David C. Kohrman, Kristina L. Mitchem, Saima Riazuddin, Robert J. Morell, Arabandi Ramesh, Srikumari Srisailpathy, Dilip Deshmukh, Sheikh Riazuddin, Andrew J. Griffith, Thomas B. Friedman, Richard J. Smith, Edward R. Wilcox

    Wydane 2002
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  18. 18
    Tricellulin Is a Tight-Junction Protein Necessary for Hearing

    Tricellulin Is a Tight-Junction Protein Necessary for Hearing od 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

    Wydane 2006
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  19. 19
    Mutations of the<i>RDX</i>gene cause nonsyndromic hearing loss at the<i>DFNB24</i>locus

    Mutations of the<i>RDX</i>gene cause nonsyndromic hearing loss at the<i>DFNB24</i>locus od Shahid Y. Khan, Zubair M. Ahmed, Muhammad Imran Shabbir, Shin‐ichiro Kitajiri, Saeeda Kalsoom, Saba Tasneem, Sara Shayiq, Arabandi Ramesh, Srikumari Srisailpathy, Shaheen N. Khan, Richard J. Smith, Saima Riazuddin, Thomas B. Friedman, Sheikh Riazuddin

    Wydane 2007
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  20. 20
    Molecular Basis of DFNB73: Mutations of BSND Can Cause Nonsyndromic Deafness or Bartter Syndrome

    Molecular Basis of DFNB73: Mutations of BSND Can Cause Nonsyndromic Deafness or Bartter Syndrome od Saima Riazuddin, Saima Anwar, Martin Fischer, Zubair M. Ahmed, Shahid Y. Khan, Audrey G.H. Janssen, Ahmad Usman Zafar, Ute I. Scholl, Tayyab Husnain, Inna A. Belyantseva, Penelope L. Friedman, Sheikh Riazuddin, Thomas B. Friedman, Christoph Fahlke

    Wydane 2009
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