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Items: 4

Select item 35961051.

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1

Thomas J. Jaworek, Rashid Bhatti, Naureen Latief, Shaheen N. Khan, Saima Riazuddin, Zubair M Ahmed

J Hum Genet. Author manuscript; available in PMC 2013 Apr 1.

Published in final edited form as: J Hum Genet. 2012 Oct; 57(10): 633–637. Published online 2012 Jun 21. doi: 10.1038/jhg.2012.79

PMCID:: PMC3596105

Article PDF–543K

Select item 29872502.

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

Hashem Shahin, Tom Walsh, Amal Abu Rayyan, Ming K Lee, Jake Higgins, Diane Dickel, Kristen Lewis, James Thompson, Carl Baker, Alex S Nord, Sunday Stray, David Gurwitz, Karen B Avraham, Mary-Claire King, Moien Kanaan

Eur J Hum Genet. 2010 Apr; 18(4): 407–413. Published online 2009 Nov 4. doi: 10.1038/ejhg.2009.190

PMCID:: PMC2987250

Article PDF–544K

Select item 27715343.

Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans

Nicolas Grillet, Martin Schwander, Michael S. Hildebrand, Anna Sczaniecka, Anand Kolatkar, Janice Velasco, Jennifer A. Webster, Kimia Kahrizi, Hossein Najmabadi, William J. Kimberling, Dietrich Stephan, Melanie Bahlo, Tim Wiltshire, Lisa M. Tarantino, Peter Kuhn, Richard J.H. Smith, Ulrich Müller

Am J Hum Genet. 2009 Sep 11; 85(3): 328–337. doi: 10.1016/j.ajhg.2009.07.017

PMCID:: PMC2771534

Article PDF–1.5M

Select item 27069594.

Noncoding Mutations of HGF Are Associated with Nonsyndromic Hearing Loss, DFNB39

Julie M. Schultz, Shaheen N. Khan, Zubair M. Ahmed, Saima Riazuddin, Ali M. Waryah, Dhananjay Chhatre, Matthew F. Starost, Barbara Ploplis, Stephanie Buckley, David Velásquez, Madhulika Kabra, Kwanghyuk Lee, Muhammad J. Hassan, Ghazanfar Ali, Muhammad Ansar, Manju Ghosh, Edward R. Wilcox, Wasim Ahmad, Glenn Merlino, Suzanne M. Leal, Sheikh Riazuddin, Thomas B. Friedman, Robert J. Morell

Am J Hum Genet. 2009 Jul 10; 85(1): 25–39. doi: 10.1016/j.ajhg.2009.06.003