Výsledky vyhledávání - Al-Hazzaa, Selwa

Chromosome 1q Terminal Deletion and Congenital Glaucoma: A Case Report Autor AlSaad, Rakan, ElMansoury, Jeylan, AlHazzaa, Selwa A.F., Dirar, Qais S.

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Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia Autor Zahrani, Fatema, Aldahmesh, Mohammed A., Alshammari, Muneera J., Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.

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Effect of Pegylated Interferon and Mitomycin C on Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum: A Case Series Autor Dirar, Qais S., Musalem, Hebah M., Al-Hazzaa, Selwa A.F., Al Zoba, Abdulaziz A., Almalki, Amal A.

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Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center Autor Musalem, Hebah M., Dirar, Qais S., Al-Hazzaa, Selwa A.F., Al Zoba, Abdul-Aziz A., El-Mansoury, Jeylan

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Etiology of optic atrophy: a prospective observational study from Saudi Arabia Autor Mbekeani, Joyce N., Fattah, Maaly Abdel, Poulsen, David M., Al Hazzaa, Selwa, Dababo, M. Anas, Eldali, Abdelmoneim, Ahmed, Manzoor

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Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss Autor Ramzan, Khushnooda, Al-Numair, Nouf S., Al-Ageel, Sarah, Elbaik, Lina, Sakati, Nadia, Al-Hazzaa, Selwa A. F., Al-Owain, Mohammed, Imtiaz, Faiqa

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IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome Autor Aldahmesh, Mohammed A., Li, Yuanyuan, Alhashem, Amal, Anazi, Shams, Alkuraya, Hisham, Hashem, Mais, Awaji, Ali A., Sogaty, Sameera, Alkharashi, Abdullah, Alzahrani, Saeed, Al Hazzaa, Selwa A., Xiong, Yong, Kong, Shanshan, Sun, Zhaoxia, Alkuraya, Fowzan S.

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In search of triallelism in Bardet–Biedl syndrome Autor Abu-Safieh, Leen, Al-Anazi, Shamsa, Al-Abdi, Lama, Hashem, Mais, Alkuraya, Hisham, Alamr, Mushari, Sirelkhatim, Mugtaba O, Al-Hassnan, Zuhair, Alkuraya, Basim, Mohamed, Jawahir Y, Al-Salem, Ahmad, Alrashed, May, Faqeih, Eissa, Softah, Ameen, Al-Hashem, Amal, Wali, Sami, Rahbeeni, Zuhair, Alsayed, Moeen, Khan, Arif O, Al-Gazali, Lihadh, Taschner, Peter EM, Al-Hazzaa, Selwa, Alkuraya, Fowzan S

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Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes Autor Abu-Safieh, Leen, Alrashed, May, Anazi, Shamsa, Alkuraya, Hisham, Khan, Arif O., Al-Owain, Mohammed, Al-Zahrani, Jawahir, Al-Abdi, Lama, Hashem, Mais, Al-Tarimi, Salwa, Sebai, Mohammed-Adeeb, Shamia, Ahmed, Ray-zack, Mohamed D., Nassan, Malik, Al-Hassnan, Zuhair N., Rahbeeni, Zuhair, Waheeb, Saad, Alkharashi, Abdullah, Abboud, Emad, Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.

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An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes Autor Wheway, Gabrielle, Schmidts, Miriam, Mans, Dorus A., Szymanska, Katarzyna, Nguyen, Thanh-Minh T., Racher, Hilary, Phelps, Ian G., Toedt, Grischa, Kennedy, Julie, Wunderlich, Kirsten A., Sorusch, Nasrin, Abdelhamed, Zakia A., Natarajan, Subaashini, Herridge, Warren, van Reeuwijk, Jeroen, Horn, Nicola, Boldt, Karsten, Parry, David A., Letteboer, Stef J.F., Roosing, Susanne, Adams, Matthew, Bell, Sandra M., Bond, Jacquelyn, Higgins, Julie, Morrison, Ewan E., Tomlinson, Darren C., Slaats, Gisela G., van Dam, Teunis J. P., Huang, Lijia, Kessler, Kristin, Giessl, Andreas, Logan, Clare V., Boyle, Evan A., Shendure, Jay, Anazi, Shamsa, Aldahmesh, Mohammed, Al Hazzaa, Selwa, Hegele, Robert A., Ober, Carole, Frosk, Patrick, Mhanni, Aizeddin A., Chodirker, Bernard N., Chudley, Albert E., Lamont, Ryan, Bernier, Francois P., Beaulieu, Chandree L., Gordon, Paul, Pon, Richard T., Donahue, Clem, Barkovich, A. James, Wolf, Louis, Toomes, Carmel, Thiel, Christian T., Boycott, Kym M., McKibbin, Martin, Inglehearn, Chris F., Stewart, Fiona, Omran, Heymut, Huynen, Martijn A., Sergouniotis, Panagiotis I., Alkuraya, Fowzan S., Parboosingh, Jillian S., Innes, A Micheil, Willoughby, Colin E., Giles, Rachel H., Webster, Andrew R., Ueffing, Marius, Blacque, Oliver, Gleeson, Joseph G., Wolfrum, Uwe, Beales, Philip L., Gibson, Toby, Doherty, Dan, Mitchison, Hannah M., Roepman, Ronald, Johnson, Colin A.

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