Genetic and genomic analysis of classic aniridia in Saudi Arabia

por Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.
Publicado 2011

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations

por Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.
Publicado 2011

A null mutation in CABP4 causes Leber’s congenital amaurosis-like phenotype

por Aldahmesh, Mohammed A., Al-Owain, Mohammed, Alqahtani, Faisal, Hazzaa, Salwa, Alkuraya, Fowzan S.
Publicado 2010

Founder heterozygous P23T CRYGD mutation associated with cerulean (and coralliform) cataract in 2 Saudi families

por Khan, Arif O., Aldahmesh, Mohammed A., Ghadhfan, Faisal E., Al-Mesfer, Saleh, Alkuraya, Fowzan S.
Publicado 2009

Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration

por Pretorius, Pamela R., Aldahmesh, Mohammed A., Alkuraya, Fowzan S., Sheffield, Val C., Slusarski, Diane C.
Publicado 2011

Novel mutations in MERTK associated with childhood onset rod-cone dystrophy

por Mackay, Donna S., Henderson, Robert H., Sergouniotis, Panagiotis I., Li, Zheng, Moradi, Phillip, Holder, Graham E., Waseem, Naushin, Bhattacharya, Shomi S., Aldahmesh, Mohammed A., Alkuraya, Fowzan S., Meyer, Brian, Webster, Andrew R., Moore, Anthony T.
Publicado 2010

Molecular characterization of retinitis pigmentosa in Saudi Arabia

por Aldahmesh, Mohammed A., Abu Safieh, Leen, Alkuraya, Hisham, Al-Rajhi, Ali, Shamseldin, Hanan, Hashem, Mais, Alzahrani, Fatemah, Khan, Arif O., Alqahtani, Faisal, Rahbeeni, Zuhair, Alowain, Mohammed, Khalak, Hanif, Al-Hazzaa, Salwa, Meyer, Brian F., Alkuraya, Fowzan S.
Publicado 2009

Characterizing the morbid genome of ciliopathies

por Shaheen, Ranad, Szymanska, Katarzyna, Basu, Basudha, Patel, Nisha, Ewida, Nour, Faqeih, Eissa, Al Hashem, Amal, Derar, Nada, Alsharif, Hadeel, Aldahmesh, Mohammed A., Alazami, Anas M., Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous M., Sonbul, Rawda, Alkuraya, Hisham, Alnemer, Maha, Al Tala, Saeed, Al-Husain, Muneera, Morsy, Heba, Seidahmed, Mohammed Zain, Meriki, Neama, Al-Owain, Mohammed, AlShahwan, Saad, Tabarki, Brahim, Salih, Mustafa A., Faquih, Tariq, El-Kalioby, Mohamed, Ueffing, Marius, Boldt, Karsten, Logan, Clare V., Parry, David A., Al Tassan, Nada, Monies, Dorota, Megarbane, Andre, Abouelhoda, Mohamed, Halees, Anason, Johnson, Colin A., Alkuraya, Fowzan S.
Publicado 2016

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

por 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.
Publicado 2015