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1دورية أكاديمية
المؤلفون: Saleh, Reem, Sasidharan Nair, Varun, Murshed, Khaled, Abu Nada, Mohamed, Elkord, EyadAff4, Shaheen, RanadAff5
المصدر: Cancer Immunology, Immunotherapy. 70(9):2625-2638
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2دورية أكاديميةComputational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements
المؤلفون: Zepeda-Mendoza, Cinthya J, Ibn-Salem, Jonas, Kammin, Tammy, Harris, David J, Rita, Debra, Gripp, Karen W, MacKenzie, Jennifer J, Gropman, Andrea, Graham, Brett, Shaheen, Ranad, Alkuraya, Fowzan S, Brasington, Campbell K, Spence, Edward J, Masser-Frye, Diane, Bird, Lynne M, Spiegel, Erica, Sparkes, Rebecca L, Ordulu, Zehra, Talkowski, Michael E, Andrade-Navarro, Miguel A, Robinson, Peter N, Morton, Cynthia C
المصدر: American Journal of Human Genetics. 101(2)
مصطلحات موضوعية: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Human Genome, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Chromosomal Position Effects, Chromosome Breakpoints, Chromosome Mapping, Chromosomes, Human, Gene Expression Regulation, Gene Rearrangement, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Humans, In Situ Hybridization, Fluorescence, Karyotype, Phenotype, Translocation, Genetic, HPO, balanced chromosomal rearrangement, chromatin conformation, chromosomal rearrangement, chromosomal translocation, clinical genetics, cytogenetics, diagnosis, distal effect, long-range effect, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
وصف الملف: application/pdf
URL الوصول: https://escholarship.org/uc/item/2d76c6kq
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3دورية أكاديمية
المؤلفون: Shamseldin, Hanan E., Shaheen, Ranad, Ewida, Nour, Bubshait, Dalal K., Alkuraya, Hisham, Almardawi, Elham, Howaidi, Ali, Sabr, Yasser, Abdalla, Ebtesam M., Alfaifi, Abdullah Y., Alghamdi, Jameel Mohammed, Alsagheir, Afaf, Alfares, Ahmed, Morsy, Heba, Hussein, Maged H., Al–Muhaizea, Mohammad A., Shagrani, Mohammad, Al Sabban, Essam, Salih, Mustafa A., Meriki, Neama, Khan, Rubina, Almugbel, Maisoon, Qari, Alya, Tulba, Maha, Mahnashi, Mohammed, Alhazmi, Khalid, Alsalamah, Abrar K., Nowilaty, Sawsan R., Alhashem, AmalAff10, Aff20, Hashem, Mais, Abdulwahab, Firdous, Ibrahim, Niema, Alshidi, Tarfa, AlObeid, Eman, Alenazi, Mona M., Alzaidan, Hamad, Rahbeeni, Zuhair, Al–Owain, Mohammed, Sogaty, Sameera, Seidahmed, Mohammed Zain, Alkuraya, Fowzan S.Aff1, Aff10, Aff20
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 22(6):1051-1060
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4دورية أكاديمية
المؤلفون: Saleh, Reem, Nair, Varun Sasidharan, Murshed, Khaled, Nada, Mohamed Abu, Elkord, EyadAff4, Shaheen, RanadAff5
المصدر: Cancer Immunology, Immunotherapy. 70(9):2639-2640
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5دورية أكاديمية
المؤلفون: Shaheen, Ranad, Maddirevula, Sateesh, Ewida, Nour, Alsahli, Saud, Abdel-Salam, Ghada M. H., Zaki, Maha S., Tala, Saeed Al, Alhashem, AmalAff4, Aff23, Softah, Ameen, Al-Owain, Mohammed, Alazami, Anas M., Abadel, Basma, Patel, Nisha, Al-Sheddi, Tarfa, Alomar, Rana, Alobeid, Eman, Ibrahim, Niema, Hashem, Mais, Abdulwahab, Firdous, Hamad, Muddathir, Tabarki, Brahim, Alwadei, Ali H., Alhazzani, Fahad, Bashiri, Fahad A., Kentab, Amal, Şahintürk, Serdar, Sherr, Elliott, Fregeau, Brieana, Sogati, Samira, Alshahwan, Saad Ali M., Alkhalifi, Salwa, Alhumaidi, Zainab, Temtamy, Samia, Aglan, Mona, Otaify, Ghada, Girisha, Katta M., Tulbah, Maha, Seidahmed, Mohammed Zain, Salih, Mustafa A., Abouelhoda, MohamedAff1, Aff17, Momin, Afaque A., Saffar, Muna AlAff19, Aff20, Partlow, Jennifer N., Arold, Stefan T., Faqeih, Eissa, Walsh, ChristopherAff20, Aff22, Alkuraya, Fowzan S.Aff1, Aff17, Aff23
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(3):545-552
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6دورية أكاديمية
المؤلفون: Maddirevula, Sateesh, Alzahrani, Fatema, Al-Owain, MohammedAff2, Aff3, Al Muhaizea, Mohammad A.Aff3, Aff4, Kayyali, Husam R., AlHashem, Amal, Rahbeeni, Zuhair, Al-Otaibi, Maha, Alzaidan, Hamad I.Aff2, Aff3, Balobaid, Ameera, El Khashab, Heba Y.Aff8, Aff9, Bubshait, Dalal K., Faden, Maha, Yamani, Suad Al, Dabbagh, Omar, Al-Mureikhi, Mariam, Jasser, Abdulla Al, Alsaif, Hessa S., Alluhaydan, Iram, Seidahmed, Mohammed Zain, Alabbasi, Bashair Hamza, Almogarri, Ibrahim, Kurdi, WesamAff15, Aff16, Akleh, Hana, Qari, Alya, Al Tala, Saeed M., Alhomaidi, Suzan, Kentab, Amal Y., Salih, Mustafa A., Chedrawi, Aziza, Alameer, Seham, Tabarki, Brahim, Shamseldin, Hanan E., Patel, Nisha, Ibrahim, Niema, Abdulwahab, Firdous, Samira, Menasria, Goljan, Ewa, Abouelhoda, MohamedAff1, Aff20, Meyer, Brian F.Aff1, Aff20, Hashem, Mais, Shaheen, Ranad, AlShahwan, Saad, Alfadhel, Majid, Ben-Omran, Tawfeg, Al-Qattan, Mohammad M., Monies, DorotaAff1, Aff20, Alkuraya, Fowzan S.Aff1, Aff3, Aff6, Aff20
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 21(3):736-742
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7دورية أكاديميةPUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly
المؤلفون: Shaheen, Ranad, Tasak, Monika, Maddirevula, Sateesh, Abdel-Salam, Ghada M. H.Aff3, Aff4, Sayed, Inas S. M., Alazami, Anas M., Al-Sheddi, Tarfa, Alobeid, Eman, Phizicky, Eric M.Aff2, Alkuraya, Fowzan S.Aff1, Aff6, Aff7
المصدر: Human Genetics. 138(3):231-239
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8دورية أكاديمية
المؤلفون: Shamseldin, Hanan E, Kurdi, Wesam, Almusafri, Fatima, Alnemer, Maha, Alkaff, Alya, Babay, Zeneb, Alhashem, Amal, Tulbah, Maha, Alsahan, Nada, Khan, Rubina, Sallout, Bahauddin, Al Mardawi, Elham, Seidahmed, Mohamed Zain, Meriki, Niema, Alsaber, Yasser, Qari, Alya, Khalifa, Ola, Eyaid, Wafaa, Rahbeeni, Zuhair, Kurdi, Ahmed, Hashem, Mais, Alshidi, Tarfa, Al-Obeid, Eman, Abdulwahab, Firdous, Ibrahim, Niema, Ewida, Nour, El-Akouri, Karen, Al Mulla, Mariam, Ben-Omran, Tawfeg, Pergande, Matthias, Cirak, Sebahattin, Al Tala, Saeed, Shaheen, Ranad, Faqeih, Eissa, Alkuraya, Fowzan SAff1, Aff17, Aff18
المصدر: Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 20(4):420-427
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9دورية أكاديمية
المؤلفون: Reynolds, John J, Bicknell, Louise SAff2, Aff34, Carroll, Paula, Higgs, Martin R, Shaheen, Ranad, Murray, Jennie E, Papadopoulos, Dimitrios K, Leitch, Andrea, Murina, Olga, Tarnauskaitė, Žygimantė, Wessel, Sarah R, Zlatanou, Anastasia, Vernet, Audrey, von Kriegsheim, Alex, Mottram, Rachel M A, Logan, Clare V, Bye, Hannah, Li, Yun, Brean, Alexander, Maddirevula, Sateesh, Challis, Rachel C, Skouloudaki, Kassiani, Almoisheer, Agaadir, Alsaif, Hessa S, Amar, Ariella, Prescott, Natalie J, Bober, Michael B, Duker, Angela, Faqeih, Eissa, Seidahmed, Mohammed Zain, Al Tala, Saeed, Alswaid, Abdulrahman, Ahmed, SaleemAff13, Aff14, Al-Aama, Jumana YousufAff13, Aff14, Altmüller, Janine, Al Balwi, Mohammed, Brady, Angela F, Chessa, Luciana, Cox, Helen, Fischetto, Rita, Heller, Raoul, Henderson, Bertram D, Hobson, Emma, Nürnberg, Peter, Percin, E Ferda, Peron, AngelaAff25, Aff26, Spaccini, Luigina, Quigley, Alan J, Thakur, Seema, Wise, Carol A, Yoon, GraceAff30, Aff31, Alnemer, Maha, Tomancak, Pavel, Yigit, Gökhan, Taylor, A Malcolm R, Reijns, Martin A M, Simpson, Michael A, Cortez, David, Alkuraya, Fowzan SAff3, IDng3790_cor59, Mathew, Christopher GAff6, Aff33, IDng3790_cor60, Jackson, Andrew PAff2, IDng3790_cor61, Stewart, Grant SAff1, IDng3790_cor62
المصدر: Nature Genetics. 49(4):537-549
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10دورية أكاديمية
المصدر: Human Genetics. November 2016 135(11):1295-1298