Search Results - "Joumaa, Hawraa"
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The genetics of rod-cone dystrophy in Arab countries: a systematic review
Published in European journal of human genetics : EJHG (01-06-2021)“…Since a substantial difference in the prevalence of genetic causes of rod-cone dystrophy (RCD) was found among different populations, we conducted a systematic…”
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Journal Article -
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The genetic landscape of inherited retinal dystrophies in Arabs
Published in BMC medical genomics (01-05-2023)“…Inherited retinal dystrophies (IRDs) are a major cause of vision loss. Altogether are highly heterogeneous genotypically and phenotypically, exhibiting…”
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Journal Article -
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Novel Missense and Splice Site Mutations in USH2A , CDH23 , PCDH15 , and ADGRV1 Are Associated With Usher Syndrome in Lebanon
Published in Frontiers in genetics (16-05-2022)“…The purpose of this study was to expand the mutation spectrum by searching the causative mutations in nine Lebanese families with Usher syndrome (USH) using…”
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Journal Article