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CtIP Mutations Cause Seckel and Jawad Syndromes. by Per Qvist, Pablo Huertas, Sonia Jimeno, Mette Nyegaard, Muhammad J Hassan, Stephen P Jackson, Anders D Børglum
Published 2011-10-01Get full text
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A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. by Mette Nyegaard, Nanna D Rendtorff, Morten S Nielsen, Thomas J Corydon, Ditte Demontis, Anna Starnawska, Anne Hedemand, Annalisa Buniello, Francesco Niola, Michael T Overgaard, Suzanne M Leal, Wasim Ahmad, Friedrik P Wikman, Kirsten B Petersen, Dorthe G Crüger, Jaap Oostrik, Hannie Kremer, Niels Tommerup, Morten Frödin, Karen P Steel, Lisbeth Tranebjærg, Anders D Børglum
Published 2015-07-01Get full text
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