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Some Deafness-Causing Mutations Can Be Silenced with the Appropriate Gene Partner by Edward Wilcox, Saima Riazuddin, Sheikh Riazuddin
Published 2001-01-01Get full text
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An alteration in ELMOD3, an Arl2 GTPase-activating protein, is associated with hearing impairment in humans. by 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
Published 2013-01-01Get full text
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P254: Genetics of Perrault syndrome in a family with ten affected individuals by Rabia Faridi, Thomas Smith, Leigh M. Demain, Yasuko Ishibashi, Sayaka Inagaki, Huw Thomas, Alessandro Rea, Arshia Maqbool, Isabelle Schrauwen, Khurram Liaqat, Zubair Ahmed, Sondhya Ghedia, Andrew Green, Ruth Sheffer, Hagar Mor-Shaked, Mathilda Wilding, Robin Hay, Saima Riazuddin, Langping He, Glenda Beaman, Wasim Ahmed, Suzanne Leal, Robert Taylor, Raymond O’Keefe, Robert Morell, Alejandro Schaffer, William Newman, Inna Belyantseva, Sheikh Riazuddin, Thomas Friedman
Published 2025-01-01Get full text
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Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome. by 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
Published 2015-03-01Get full text
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