Analysis of rod-cone dystrophy genes reveals unique mutational patterns

por Jaffal, Lama, Ibrahim, Mariam, El Shamieh, Said
Publicado 2022

Association of TLR4 Polymorphisms, Expression, and Vitamin D with Helicobacter pylori Infection

por Assaad, Shafika, Costanian, Christy, Jaffal, Lama, Tannous, Fida, Stathopoulou, Maria G., Shamieh, Said El
Publicado 2019

The research output of rod-cone dystrophy genetics

por Jaffal, Lama, Mrad, Zamzam, Ibrahim, Mariam, Salami, Ali, Audo, Isabelle, Zeitz, Christina, El Shamieh, Said
Publicado 2022

The genetic landscape of inherited retinal dystrophies in Arabs

por Jaffal, Lama, Joumaa, Hawraa, Noureldine, Jinane, Banjak, Malak, Ibrahim, Mariam, Mrad, Zamzam, Salami, Ali, Shamieh, Said El
Publicado 2023

Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet–Biedl and Usher Syndromes

por Jaffal, Lama, Joumaa, Wissam H, Assi, Alexandre, Helou, Charles, Cherfan, George, Zibara, Kazem, Audo, Isabelle, Zeitz, Christina, El Shamieh, Said
Publicado 2019

Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients

por Jaffal, Lama, Joumaa, Wissam H., Assi, Alexandre, Helou, Charles, Condroyer, Christel, El Dor, Maya, Cherfan, Georges, Zeitz, Christina, Audo, Isabelle, Zibara, Kazem, El Shamieh, Said
Publicado 2019

Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon

por 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
Publicado 2022