Homozygous null mutation in ODZ3 causes microphthalmia in humans von Aldahmesh, Mohammed A., Mohammed, Jawahir Y., Al-Hazzaa, Selwa, Alkuraya, Fowzan S.

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Genomic analysis of pediatric cataract in Saudi Arabia reveals novel candidate disease genes von Aldahmesh, Mohammed A, Khan, Arif O, Mohamed, Jawahir Y, Hijazi, Hadia, Al-Owain, Mohammed, Alswaid, Abdulrahman, Alkuraya, Fowzan S

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Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations von Khan, Arif O, Aldahmesh, Mohammed A, Alkuraya, Fowzan S

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Novel recessive BFSP2 and PITX3 mutations: Insights into mutational mechanisms from consanguineous populations von Aldahmesh, Mohammed A, Khan, Arif O, Mohamed, Jawahir, Alkuraya, Fowzan S

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A novel mutation in PRDM5 in brittle cornea syndrome von Aldahmesh, MA, Mohamed, JY, Alkuraya, FS

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

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A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype von Aldahmesh, Mohammed A, Al-Owain, Mohammed, Alqahtani, Faisal, Hazzaa, Salwa, Alkuraya, Fowzan S

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Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging von Aldahmesh, M. A., Al-Hassnan, Z. N., Aldosari, M., Alkuraya, F. S.

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Genetic investigation of 93 families with microphthalmia or posterior microphthalmos von Patel, N., Khan, A.O., Alsahli, S., Abdel‐Salam, G., Nowilaty, S.R., Mansour, A.M., Nabil, A., Al‐Owain, M., Sogati, S., Salih, M.A., Kamal, A.M., Alsharif, H., Alsaif, H.S., Alzahrani, S.S., Abdulwahab, F., Ibrahim, N., Hashem, M., Faquih, T., Shah, Z.A., Abouelhoda, M., Monies, D., Dasouki, M., Shaheen, R., Wakil, S.M., Aldahmesh, M.A., Alkuraya, F.S.

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Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies von Patel, N., Alkuraya, H., Alzahrani, S.S., Nowailaty, S.R., Seidahmed, M.Z., Alhemidan, A., Ben‐Omran, T., Ghazi, N.G., Al‐Aqeel, A., Al‐Owain, M., Alzaidan, H.I., Faqeih, E., Kurdi, W., Rahbeeni, Z., Ibrahim, N., Abdulwahab, F., Hashem, M., Shaheen, R., Abouelhoda, M., Monies, D., Khan, A.O., Aldahmesh, M.A., Alkuraya, Fowzan S.

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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... von 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

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Corneal Decompensation in Recessive Cornea Plana von Khan, Arif O., Aldahmesh, Mohammed A., Al-Gehedan, Saeed, Meyer, Brain F., Alkuraya, Fowzan S.

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Characterizing the morbid genome of ciliopathies von Shaheen, R, Szymanska, K, Basu, B, Patel, N, Ewida, N, Faqeih, E, Al Hashem, A, Derar, N, Alsharif, H, Aldahmesh, MA, Alazami, AM, Hashem, M, Ibrahim, N, Abdulwahab, FM, Sonbul, R, Alkuraya, H, Alnemer, M, Al Tala, S, Al-Husain, M, Morsy, H, Seidahmed, MZ, Meriki, N, Al-Owain, M, AlShahwan, S, Tabarki, B, Salih, MA, Faquih, T, El-Kalioby, M, Ueffing, M, Boldt, K, Logan, CV, Parry, DA, Al Tassan, N, Monies, D, Megarbane, A, Abouelhoda, M, Halees, A, Johnson, CA, Alkuraya, FS

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An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes von Wheway, G, Schmidts, M, Mans, DA, Szymanska, K, Nguyen, TT, Racher, H, Phelps, IG, Toedt, G, Kennedy, J, Wunderlich, KA, Sorusch, N, Abdelhamed, ZA, Natarajan, S, Herridge, W, van Reeuwijk, J, Horn, N, Boldt, K, Parry, DA, Letteboer, SJ, Roosing, S, Adams, M, Bell, SM, Bond, J, Higgins, J, Morrison, EE, Tomlinson, DC, Slaats, GG, van Dam, TJ, Huang, L, Kessler, K, Giessl, A, Logan, CV, Boyle, EA, Shendure, J, Anazi, S, Aldahmesh, M, Al Hazzaa, S, Hegele, RA, Ober, C, Frosk, P, Mhanni, AA, Chodirker, BN, Chudley, AE, Lamont, R, Bernier, FP, Beaulieu, CL, Gordon, P, Pon, RT, Donahue, C, Barkovich, AJ, Wolf, L, Toomes, C, Thiel, CT, Boycott, KM, McKibbin, M, Inglehearn, CF, UK10K Consortium, University ofWashington Center forMendelian Genomics, Stewart, F, Omran, H, Huynen, MA, Sergouniotis, PI, Alkuraya, FS, Parboosingh, JS, Innes, AM, Willoughby, CE, Giles, RH, Webster, AR, Ueffing, M, Blacque, O, Gleeson, JG, Wolfrum, U, Beales, PL, Gibson, T, Doherty, D, Mitchison, HM, Roepman, R, Johnson, CA

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