Clinical exome sequencing in 509 Middle Eastern families with suspected Mendelian diseases: The Qatari experience
Al‐Dewik, Nader, Mohd, Howaida, Al‐Mureikhi, Mariam, Ali, Rehab, Al‐Mesaifri, Fatma, Mahmoud, Laila, Shahbeck, Noora, El‐Akouri, Karen, Almulla, Mariam, Al Sulaiman, Reem, Musa, Sara, Al‐Marri, Ajayeb Al‐Nabet, Richard, Gabriele, Juusola, Jane, Solomon, Benjamin D., Alkuraya, Fowzan S., Ben‐Omran, Tawfeg
Published in American journal of medical genetics. Part A (01.06.2019)
Published in American journal of medical genetics. Part A (01.06.2019)
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Journal Article
Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review
Ali, Rehab, Al‐Dewik, Nader, Mohammed, Shayma, Elfituri, Mahmud, Agouba, Sahar, Musa, Sara, Mahmoud, Laila, Almulla, Mariam, El‐Akouri, Karen, Mohd, Howaida, Bux, Reem, Almulla, Hajer, Othman, Amna, Al‐Mesaifri, Fatma, Shahbeck, Noora, Al‐Muriekhi, Mariam, Khalifa, Amal, Al‐Sulaiman, Reem, Ben‐Omran, Tawfeg
Published in American journal of medical genetics. Part A (01.01.2022)
Published in American journal of medical genetics. Part A (01.01.2022)
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Journal Article
A founder RAB27A variant causes Griscelli syndrome type 2 with phenotypic heterogeneity in Qatari families
Al‐Sulaiman, Reem, Othman, Amna, El‐Akouri, Karen, Fareed, Shehab, AlMulla, Hajer, Sukik, Aseel, Al‐Mureikhi, Mariam, Shahbeck, Noora, Ali, Rehab, Al‐Mesaifri, Fatma, Musa, Sara, Al‐Mulla, Mariam, Ibrahim, Khalid, Mohamed, Khalid, Al‐Nesef, Maryam Ali, Ehlayel, Mohammad, Ben‐Omran, Tawfeg
Published in American journal of medical genetics. Part A (01.11.2020)
Published in American journal of medical genetics. Part A (01.11.2020)
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Journal Article
Clinical genetics and genomic medicine in Qatar
Al‐Dewik, Nader, Al‐Mureikhi, Mariam, Shahbeck, Noora, Ali, Rehab, Al‐Mesaifri, Fatma, Mahmoud, Laila, Othman, Amna, AlMulla, Mariam, Sulaiman, Reem Al, Musa, Sara, Abdoh, Ghassan, El‐Akouri, Karen, Solomon, Benjamin D., Ben‐Omran, Tawfeg
Published in Molecular genetics & genomic medicine (01.09.2018)
Published in Molecular genetics & genomic medicine (01.09.2018)
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Journal Article
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population
Al‐Dewik, Nader, Ali, Alaa, Mahmoud, Yassmin, Shahbeck, Noora, Ali, Rehab, Mahmoud, Laila, Al‐Mureikhi, Mariam, Al‐Mesaifri, Fatma, Musa, Sara, El‐Akouri, Karen, Almulla, Mariam, Al Saadi, Reem, Nasrallah, Gheyath K., Samara, Muthanna, Abdoh, Ghassan, Rifai, Hilal Al, Häberle, Johannes, Thöny, Beat, Kruger, Warren, Blom, Henk J., Ben‐Omran, Tawfeg
Published in Journal of inherited metabolic disease (01.09.2019)
Published in Journal of inherited metabolic disease (01.09.2019)
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Journal Article
A Middle Eastern Founder Mutation Expands the Genotypic and Phenotypic Spectrum of Mitochondrial MICU1 Deficiency: A Report of 13 Patients
Musa, Sara, Eyaid, Wafaa, Kamer, Kimberli, Ali, Rehab, Al-Mureikhi, Mariam, Shahbeck, Noora, Al Mesaifri, Fatma, Makhseed, Nawal, Mohamed, Zakkiriah, AlShehhi, Wafaa Ali, Mootha, Vamsi K., Juusola, Jane, Ben-Omran, Tawfeg
Published in JIMD Reports, Volume 43 (2019)
Published in JIMD Reports, Volume 43 (2019)
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Book Chapter
Journal Article
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders
Yavarna, Tarunashree, Al-Dewik, Nader, Al-Mureikhi, Mariam, Ali, Rehab, Al-Mesaifri, Fatma, Mahmoud, Laila, Shahbeck, Noora, Lakhani, Shenela, AlMulla, Mariam, Nawaz, Zafar, Vitazka, Patrik, Alkuraya, Fowzan S., Ben-Omran, Tawfeg
Published in Human genetics (01.09.2015)
Published in Human genetics (01.09.2015)
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Journal Article
Gene therapy for spinal muscular atrophy: the Qatari experience
Ali, Hossamaldein Gaber, Ibrahim, Khalid, Elsaid, Mahmoud Fawzi, Mohamed, Reem Babiker, Abeidah, Mahmoud I. A., Al Rawwas, Azhar Othman, Elshafey, Khaled, Almulla, Hajer, El-Akouri, Karen, Almulla, Mariam, Othman, Amna, Musa, Sara, Al-Mesaifri, Fatma, Ali, Rehab, Shahbeck, Noora, Al-Mureikhi, Mariam, Alsulaiman, Reem, Alkaabi, Saad, Ben-Omran, Tawfeg
Published in Gene therapy (01.11.2021)
Published in Gene therapy (01.11.2021)
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Journal Article
Incorporating Haptic and Olfactory into Surgical Simulation
Halabi, Osama, Al-Mesaifri, Fatma, Al-Ansari, Mariam, Al-Shaabi, Roqaya, Barki, Hichem, Foufou, Sebti
Published in 2013 International Conference on Cyberworlds (01.10.2013)
Published in 2013 International Conference on Cyberworlds (01.10.2013)
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Conference Proceeding