Search Results - "Joumaa, Hawraa"

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  1. 1

    The genetics of rod-cone dystrophy in Arab countries: a systematic review by Jaffal, Lama, Joumaa, Hawraa, Mrad, Zamzam, Zeitz, Christina, Audo, Isabelle, El Shamieh, Said

    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
  2. 2

    The genetic landscape of inherited retinal dystrophies in Arabs by Jaffal, Lama, Joumaa, Hawraa, Noureldine, Jinane, Banjak, Malak, Ibrahim, Mariam, Mrad, Zamzam, Salami, Ali, Shamieh, Said El

    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
  3. 3

    Novel Missense and Splice Site Mutations in USH2A , CDH23 , PCDH15 , and ADGRV1 Are Associated With Usher Syndrome in Lebanon by Jaffal, Lama, Akhdar, Hanane, Joumaa, Hawraa, Ibrahim, Mariam, Chhouri, Zahraa, Assi, Alexandre, Helou, Charles, Lee, Hane, Seo, Go Hun, Joumaa, Wissam H, El Shamieh, Said

    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