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Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families
published 20 Jun 2014
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Whole Exome Sequencing Identifies New Causative Mutations in Tunisian Families with Non-Syndromic Deafness
published 13 Jun 2014
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An Amino Acid Deletion in SZT2 in a Family with Non-Syndromic Intellectual Disability
published 06 Dec 2013
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A Novel Autosomal Recessive GJA1 Missense Mutation Linked to Craniometaphyseal Dysplasia
published 12 Aug 2013
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Autosomal Recessive Transmission of MYBPC3 Mutation Results in Malignant Phenotype of Hypertrophic Cardiomyopathy
published 28 Jun 2013
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Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
published 13 Jun 2013
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Prevalence of p.V37I Variant of GJB2 in Mild or Moderate Hearing Loss in a Pediatric Population and the Interpretation of Its Pathogenicity
published 25 Apr 2013
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Centronuclear Myopathy in Labrador Retrievers: A Recent Founder Mutation in the PTPLA Gene Has Rapidly Disseminated Worldwide
published 05 Oct 2012
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