Rezultaty 1 - 16 Rezultaty od 16 Dla wyszukiwania 'Saima Riazuddin', Czas wyszukiwania: 0,05s
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Identification of rare missense variants in the BSN gene co‐segregating with chronic otitis media in a consanguineous Pakistani family od Ayesha Yousaf, Sairah Yousaf, Asra S. Shabbir, Rafia Yousaf, Saima Riazuddin, Rehan S. Shaikh, Regie Lyn P. Santos‐Cortez, Zubair M. Ahmed
Wydane 2024-09-01
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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 2018-03-01
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An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. od Thomas J Jaworek, Elodie M Richard, Anna A Ivanova, Arnaud P J Giese, Daniel I Choo, Shaheen N Khan, Sheikh Riazuddin, Richard A Kahn, Saima Riazuddin
Wydane 2013-01-01
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Correction: 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 Giese, J M Grossheim, Rashmi S Hegde, Maria Delio, Joy Samanich, Saima Riazuddin, Gregory I Frolenkov, Jinlu Cai, Zubair M Ahmed, Bernice E Morrow
Wydane 2015-01-01
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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 Giese, J M Grossheim, Rashmi S Hegde, Maria Delio, Joy Samanich, Saima Riazuddin, Gregory I Frolenkov, Jinlu Cai, Zubair M Ahmed, Bernice E Morrow
Wydane 2015-01-01
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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 2021-06-01
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Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan od Muhammad Rashid, Sairah Yousaf, Shakeel A. Sheikh, Zureesha Sajid, Asra S. Shabbir, Tasleem Kausar, Nabeela Tariq, Muhammad Usman, Rehan S. Shaikh, Muhammad Ali, Shazia A. Bukhari, Ali M. Waryah, Muhammad Qasim, Saima Riazuddin, Zubair M. Ahmed
Wydane 2019-02-01
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Proposed therapy, developed in a Pcdh15-deficient mouse, for progressive loss of vision in human Usher syndrome od Saumil Sethna, Wadih M Zein, Sehar Riaz, Arnaud PJ Giese, Julie M Schultz, Todd Duncan, Robert B Hufnagel, Carmen C Brewer, Andrew J Griffith, T Michael Redmond, Saima Riazuddin, Thomas B Friedman, Zubair M Ahmed
Wydane 2021-11-01
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CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells od Arnaud P. J. Giese, Yi-Quan Tang, Ghanshyam P. Sinha, Michael R. Bowl, Adam C. Goldring, Andrew Parker, Mary J. Freeman, Steve D. M. Brown, Saima Riazuddin, Robert Fettiplace, William R. Schafer, Gregory I. Frolenkov, Zubair M. Ahmed
Wydane 2017-06-01
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Complexes of vertebrate TMC1/2 and CIB2/3 proteins form hair-cell mechanotransduction cation channels od Arnaud PJ Giese, Wei-Hsiang Weng, Katie S Kindt, Hui Ho Vanessa Chang, Jonathan S Montgomery, Evan M Ratzan, Alisha J Beirl, Roberto Aponte Rivera, Jeffrey M Lotthammer, Sanket Walujkar, Mark P Foster, Omid A Zobeiri, Jeffrey R Holt, Saima Riazuddin, Kathleen E Cullen, Marcos Sotomayor, Zubair M Ahmed
Wydane 2025-01-01
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Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephaly od Amama Ghaffar, Tehmeena Akhter, Petter Strømme, Doriana Misceo, Amjad Khan, Eirik Frengen, Muhammad Umair, Bertrand Isidor, Benjamin Cogné, Asma A. Khan, Ange-Line Bruel, Arthur Sorlin, Paul Kuentz, Christine Chiaverini, A. Micheil Innes, Michael Zech, Marek Baláž, Petra Havrankova, Robert Jech, Zubair M. Ahmed, Sheikh Riazuddin, Saima Riazuddin
Wydane 2024-07-01
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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. od Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin
Wydane 2015-03-01
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