UOBScholar Hub
UOB Libraries created the UOBScholar Hub, an Institutional Repository (IR) for archiving and collecting all the research output of the UOB community. It aims to improve the visibility, usage and impact of research conducted at UOB. Materials included are: academic journal articles, conference papers and presentations, books and book chapters, ongoing research papers, reports and patents.
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Browsing by Author El-Hayek, Stephany
Showing results 1 to 4 of 4
| Issue Date | Title | Author(s) |
|---|---|---|
| 2021 | Clinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG Genes | Farah, Roula A; Nair, Pratibha; Koueik, Jack; Yammine, Tony; Khalifeh, Hassan; Korban, Rima; Collet, Agnes; Khayat, Claudia; Dubois-Denghien, Catherine; Chouery, Eliane; Blanluet, Maud; El-Hayek, Stephany; Stoppa-Lyonnet, Dominique; Megarbane, Andre |
| 2021 | Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome | Mégarbané, André; Hana, Sayeeda; Mégarbané, Hala; Castro, Christel; Baulande, Sylvain; Criqui, Audrey; Roëckel-Trevisiol, Nathalie; Dagher, Christel; Al-Ali, Mahmoud Taleb; Desvignes, Jean-Pierre; Mahfoud, Daniel; El-Hayek, Stephany; Delague, Valérie |
| 2018 | Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases | Nair, Pratibha; Sabbagh, Sandra; Mansour, Hicham; Fawaz, Ali; Hmaimess, Ghassan; Noun, Peter; Dagher, Rawane; Megarbane, Hala; Hana, Sayeeda; Alame, Saada; Lamaa, Maher; Hasbini, Dana; Farah, Roula; Rajab, Mariam; Stora, Samantha; El-Tourjuman, Oulfat; Abou Jaoude, Pauline; Chalouhi, Gihad; Sayad, Rony; Gillart, Anne-Celine; Al-Ali, Mahmoud; Delague, Valerie; El-Hayek, Stephany; Mégarbané, André |
| 2019 | A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22) | Mégarbané, André; Hmaimess, Ghassan; Bizzari, Sami; El-Bazzal, Lara; Al-Ali, Mahmoud Taleb; Stora, Samantha; Delague, Valerie; El-Hayek, Stephany |