Search Results - "Alkowari, Moza Khalifa"
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Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss
Published in PloS one (02-12-2013)“…Nonsyndromic Hereditary Hearing Loss is a common disorder accounting for at least 60% of prelingual deafness. GJB2 gene mutations, GJB6 deletion, and the…”
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Journal Article -
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Increased rate of deleterious variants in long runs of homozygosity of an inbred population from Qatar
Published in Human heredity (01-01-2015)“…The aim of this study is to evaluate the fraction of putatively deleterious variants within genomic runs of homozygosity (ROH) regions in an inbred and…”
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Consanguinity and hereditary hearing loss in Qatar
Published in Human heredity (01-01-2014)“…Qatar is a sovereign state located on the Eastern coast of the Arabian Peninsula in the Persian Gulf. Its native population consists of 3 major subgroups:…”
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Linkage Study and Exome Sequencing Identify a BDP1 Mutation Associated with Hereditary Hearing Loss: e80323
Published in PloS one (01-12-2013)“…Nonsyndromic Hereditary Hearing Loss is a common disorder accounting for at least 60% of prelingual deafness. GJB2 gene mutations, GJB6 deletion, and the…”
Get full text
Journal Article