The enhanced S‐cone syndrome in children

بواسطة Khan, Arif O, Aldahmesh, Mohammed, Meyer, Brian
منشور في 2007

Genetic and genomic analysis of classic aniridia in Saudi Arabia

بواسطة Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.
منشور في 2011

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

بواسطة Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.
منشور في 2011

Phenotypes of Recessive Pediatric Cataract in a Cohort of Children with Identified Homozygous Gene Mutations (An American Ophthalmological Society Thesis)

بواسطة Khan, Arif O., Aldahmesh, Mohammed A., Alkuraya, Fowzan S.
الحاوية / القاعدة Trans Am Ophthalmol Soc (2015)

Infantile Nephropathic Cystinosis: A Novel CTNS Mutation

بواسطة Doneray, Hakan, Aldahmesh, Mohammed, Yilmaz, Gulsah, Cinici, Emine, Orbak, Zerrin
الحاوية / القاعدة Eurasian J Med (2017)

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

بواسطة Aldahmesh, Mohammed A., Al-Owain, Mohammed, Alqahtani, Faisal, Hazzaa, Salwa, Alkuraya, Fowzan S.
منشور في 2010

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

بواسطة Khan, Arif O., Aldahmesh, Mohammed A., Ghadhfan, Faisal E., Al-Mesfer, Saleh, Alkuraya, Fowzan S.
منشور في 2009

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

بواسطة Pretorius, Pamela R., Aldahmesh, Mohammed A., Alkuraya, Fowzan S., Sheffield, Val C., Slusarski, Diane C.
منشور في 2011

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

Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia

بواسطة Aldahmesh, Mohammed A., Mohamed, Jawahir Y., Alkuraya, Hisham S., Verma, Ishwar C., Puri, Ratna D., Alaiya, Ayodele A., Rizzo, William B., Alkuraya, Fowzan S.
منشور في 2011

MeltMADGE for mutation scanning of specific genes in population studies

بواسطة Alharbi, Khalid K, Aldahmesh, Mohammed A, Gaunt, Tom R, Rassoulian, Hamid, Guthrie, Philip AI, Rodriguez, Santiago, Boustred, Christopher R, Spanakis, Emmanuel, Day, Ian NM
منشور في 2010

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

بواسطة 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.
منشور في 2010

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

Molecular characterization of retinitis pigmentosa in Saudi Arabia

بواسطة 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.
منشور في 2009

Mutations in LRPAP1 Are Associated with Severe Myopia in Humans

بواسطة Aldahmesh, Mohammed A., Khan, Arif O., Alkuraya, Hisham, Adly, Nouran, Anazi, Shamsa, Al-Saleh, Ahmed A., Mohamed, Jawahir Y., Hijazi, Hadia, Prabakaran, Sarita, Tacke, Marlene, Al-Khrashi, Abdullah, Hashem, Mais, Reinheckel, Thomas, Assiri, Abdullah, Alkuraya, Fowzan S.
منشور في 2013

Novel phenotypes and loci identified through clinical genomics approaches to pediatric cataract

بواسطة Patel, Nisha, Anand, Deepti, Monies, Dorota, Maddirevula, Sateesh, Khan, Arif O., Algoufi, Talal, Alowain, Mohammed, Faqeih, Eissa, Alshammari, Muneera, Qudair, Ahmed, Alsharif, Hadeel, Aljubran, Fatimah, Alsaif, Hessa S., Ibrahim, Niema, Abdulwahab, Firdous M., Hashem, Mais, Alsedairy, Haifa, Aldahmesh, Mohammed A., Lachke, Salil A., Alkuraya, Fowzan S.
الحاوية / القاعدة Hum Genet (2016)

Mutation scanning by meltMADGE: Validations using BRCA1 and LDLR, and demonstration of the potential to identify severe, moderate, silent, rare, and paucimorphic mutations in the g...

بواسطة Alharbi, Khalid K., Aldahmesh, Mohammed A., Spanakis, Emmanuel, Haddad, Lema, Whittall, Roslyn A., Chen, Xiao-he, Rassoulian, Hamid, Smith, Matt J., Sillibourne, Julie, Ball, Nicola J., Graham, Nikki J., Briggs, Patricia J., Simpson, Iain A., Phillips, David I.W., Lawlor, Deborah A., Ye, Shu, Humphries, Stephen E., Cooper, Cyrus, Smith, George Davey, Ebrahim, Shah, Eccles, Diana M., Day, Ian N.M.
منشور في 2005

Characterizing the morbid genome of ciliopathies

بواسطة 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.
الحاوية / القاعدة Genome Biol (2016)

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)