Chromosome 1q Terminal Deletion and Congenital Glaucoma: A Case Report

بواسطة AlSaad, Rakan, ElMansoury, Jeylan, AlHazzaa, Selwa A.F., Dirar, Qais S.
الحاوية / القاعدة Am J Case Rep (2020)

Mutations in C12orf57 Cause a Syndromic Form of Colobomatous Microphthalmia

بواسطة Zahrani, Fatema, Aldahmesh, Mohammed A., Alshammari, Muneera J., Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.
منشور في 2013

Effect of Pegylated Interferon and Mitomycin C on Ocular Surface Squamous Neoplasia in Xeroderma Pigmentosum: A Case Series

بواسطة Dirar, Qais S., Musalem, Hebah M., Al-Hazzaa, Selwa A.F., Al Zoba, Abdulaziz A., Almalki, Amal A.
الحاوية / القاعدة Am J Case Rep (2020)

Unusual Association of Aniridia with Aicardi-Goutières Syndrome-Related Congenital Glaucoma in a Tertiary Care Center

بواسطة Musalem, Hebah M., Dirar, Qais S., Al-Hazzaa, Selwa A.F., Al Zoba, Abdul-Aziz A., El-Mansoury, Jeylan
الحاوية / القاعدة Am J Case Rep (2018)

Etiology of optic atrophy: a prospective observational study from Saudi Arabia

بواسطة Mbekeani, Joyce N., Fattah, Maaly Abdel, Poulsen, David M., Al Hazzaa, Selwa, Dababo, M. Anas, Eldali, Abdelmoneim, Ahmed, Manzoor
الحاوية / القاعدة Ann Saudi Med (2017)

Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss

بواسطة Ramzan, Khushnooda, Al-Numair, Nouf S., Al-Ageel, Sarah, Elbaik, Lina, Sakati, Nadia, Al-Hazzaa, Selwa A. F., Al-Owain, Mohammed, Imtiaz, Faiqa
الحاوية / القاعدة Genes (Basel) (2020)

IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome

بواسطة 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.
منشور في 2014

In search of triallelism in Bardet–Biedl syndrome

بواسطة 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
منشور في 2012

Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes

بواسطة 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.
منشور في 2013

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes

بواسطة 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.
الحاوية / القاعدة Nat Cell Biol (2015)