Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example von Aldahmesh, Mohamed A., Abu‐Safieh, Leen, Khan, Arif O., Al‐Hassnan, Zuhair N., Shaheen, Ranad, Rajab, Mohammed, Monies, Dorota, Meyer, Brian F., Alkuraya, Fowzan S.

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A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family von Al-Hamed, Mohamed, Sayer, John A., Al-Hassoun, Ibrahim, Aldahmesh, Mohamed A., Meyer, Brian

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A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family von Al-Hamed, Mohamed, Sayer, John A, Al-Hassoun, Ibrahim, Aldahmesh, Mohamed A, Meyer, Brian

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Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative example von Aldahmesh, Mohamed A., Abu-Safieh, Leen, Khan, Arif O., Al-Hassnan, Zuhair N., Shaheen, Ranad, Rajab, Mohammed, Monies, Dorota, Meyer, Brian F., Alkuraya, Fowzan S.

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Characterizing the morbid genome of ciliopathies von 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

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Recessive Mutations in ELOVL4 Cause Ichthyosis, Intellectual Disability, and Spastic Quadriplegia von Aldahmesh, Mohammed A., Mohamed, Jawahir Y., Alkuraya, Hisham S., Verma, Ishwar C., Puri, Ratna D., Alaiya, Ayodele A., Rizzo, William B., Alkuraya, Fowzan S.

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Mutations in LRPAP1 Are Associated with Severe Myopia in Humans von 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.

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Identification of ADAMTS18 as a gene mutated in Knobloch syndrome von Aldahmesh, Mohammed A, Khan, Arif O, Mohamed, Jawahir Y, Alkuraya, Hisham, Ahmed, Hala, Bobis, Steve, Al-Mesfer, Saleh, 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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Mutation in ADAT3, encoding adenosine deaminase acting on transfer RNA, causes intellectual disability and strabismus von Alazami, Anas M, Hijazi, Hadia, Al-Dosari, Mohammed S, Shaheen, Ranad, Hashem, Amal, Aldahmesh, Mohammed A, Mohamed, Jawahir Y, Kentab, Amal, Salih, Mustafa A, Awaji, Ali, Masoodi, Tariq A, Alkuraya, Fowzan S

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The distinct ophthalmic phenotype of Knobloch syndrome in children von Khan, Arif O, Aldahmesh, Mohammed A, Mohamed, Jawahir Y, Al-Mesfer, Saleh, Alkuraya, Fowzan S

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Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families von Alazami, Anas M., Patel, Nisha, Shamseldin, Hanan E., Anazi, Shamsa, Al-Dosari, Mohammed S., Alzahrani, Fatema, Hijazi, Hadia, Alshammari, Muneera, Aldahmesh, Mohammed A., Salih, Mustafa A., Faqeih, Eissa, Alhashem, Amal, Bashiri, Fahad A., Al-Owain, Mohammed, Kentab, Amal Y., Sogaty, Sameera, Al Tala, Saeed, Temsah, Mohamad-Hani, Tulbah, Maha, Aljelaify, Rasha F., Alshahwan, Saad A., Seidahmed, Mohammed Zain, Alhadid, Adnan A., Aldhalaan, Hesham, AlQallaf, Fatema, Kurdi, Wesam, Alfadhel, Majid, Babay, Zainab, Alsogheer, Mohammad, Kaya, Namik, Al-Hassnan, Zuhair N., Abdel-Salam, Ghada M.H., Al-Sannaa, Nouriya, Al Mutairi, Fuad, El Khashab, Heba Y., Bohlega, Saeed, Jia, Xiaofei, Nguyen, Henry C., Hammami, Rakad, Adly, Nouran, Mohamed, Jawahir Y., Abdulwahab, Firdous, Ibrahim, Niema, Naim, Ewa A., Al-Younes, Banan, Meyer, Brian F., Hashem, Mais, Shaheen, Ranad, Xiong, Yong, Abouelhoda, Mohamed, Aldeeri, Abdulrahman A., Monies, Dorota M., 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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Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophies von Patel, Nisha, Aldahmesh, Mohammed A., Alkuraya, Hisham, Anazi, Shamsa, Alsharif, Hadeel, Khan, Arif O., Sunker, Asma, Al-mohsen, Saleh, Abboud, Emad B., Nowilaty, Sawsan R., Alowain, Mohammed, Al-Zaidan, Hamad, Al-Saud, Bandar, Alasmari, Ali, Abdel-Salam, Ghada M.H., Abouelhoda, Mohamed, Abdulwahab, Firdous M., Ibrahim, Niema, Naim, Ewa, Al-Younes, Banan, E. AlMostafa, Abeer, AlIssa, Abdulelah, Hashem, Mais, Buzovetsky, Olga, Xiong, Yong, Monies, Dorota, Altassan, Nada, Shaheen, Ranad, Al-Hazzaa, Selwa A.F., Alkuraya, Fowzan S.

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The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18 von Aldahmesh, Mohammed A., Alshammari, Muneera J., Khan, Arif O., Mohamed, Jawahir Y., Alhabib, Fatimah 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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Identification of a truncation mutation of acylglycerol kinase (AGK) gene in a novel autosomal recessive cataract locus von Aldahmesh, Mohammed A., Khan, Arif O., Mohamed, Jawahir Y., Alghamdi, Mohammed H., Alkuraya, Fowzan S.

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Exome-based case–control association study using extreme phenotype design reveals novel candidates with protective effect in diabetic retinopathy von Shtir, Corina, Aldahmesh, Mohammed A., Al-Dahmash, Saad, Abboud, Emad, Alkuraya, Hisham, Abouammoh, Marwan A., Nowailaty, Sawsan R., Al-Thubaiti, Ghazai, Naim, E. A., ALYounes, B., Binhumaid, F. S., ALOtaibi, A. B., Altamimi, A. S., Alamer, F. H., Hashem, Mais, Abouelhoda, Mohamed, Monies, Dorota, Alkuraya, Fowzan S.

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Juvenile Cataract Morphology in 3 Siblings Not Yet Diagnosed with Cerebrotendinous Xanthomatosis von Khan, Arif O., MD, Aldahmesh, Mohammed A., PhD, Mohamed, Jawaher Y., BSc, Alkuraya, Fowzan S., MD

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No evidence for locus heterogeneity in Knobloch syndrome von Aldahmesh, Mohammed A, Khan, Arif O, Mohamed, Jawahir Y, Levin, Alex V, Wuthisiri, Wadakarn, Lynch, Sally, McCreery, K, Alkuraya, Fowzan S

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