نتائج البحث - Ewida, Nour

A homozygous truncating mutation in PUS3 expands the role of tRNA modification in normal cognition حسب Shaheen, Ranad, Han, Lu, Faqeih, Eissa, Ewida, Nour, Alobeid, Eman, Phizicky, Eric M., Alkuraya, Fowzan S.

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Lethal variants in humans: lessons learned from a large molecular autopsy cohort حسب Shamseldin, Hanan E., AlAbdi, Lama, Maddirevula, Sateesh, Alsaif, Hessa S., Alzahrani, Fatema, Ewida, Nour, Hashem, Mais, Abdulwahab, Firdous, Abuyousef, Omar, Kuwahara, Hiroyuki, Gao, Xin, Alkuraya, Fowzan S.

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ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition حسب Alkanderi, Sumaya, Molinari, Elisa, Shaheen, Ranad, Elmaghloob, Yasmin, Stephen, Louise A., Sammut, Veronica, Ramsbottom, Simon A., Srivastava, Shalabh, Cairns, George, Edwards, Noel, Rice, Sarah J., Ewida, Nour, Alhashem, Amal, White, Kathryn, Miles, Colin G., Steel, David H., Alkuraya, Fowzan S., Ismail, Shehab, Sayer, John A.

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Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans حسب Shaheen, Ranad, Jiang, Nan, Alzahrani, Fatema, Ewida, Nour, Al-Sheddi, Tarfa, Alobeid, Eman, Musaev, Damir, Stanley, Valentina, Hashem, Mais, Ibrahim, Niema, Abdulwahab, Firdous, Alshenqiti, Abduljabbar, Sonmez, Fatma Mujgan, Saqati, Nadia, Alzaidan, Hamad, Al-Qattan, Mohammad M., Al-Mohanna, Futwan, Gleeson, Joseph G., Alkuraya, Fowzan S.

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Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics حسب Maddirevula, Sateesh, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, AlSheddi, Tarfa, AlObeid, Eman, Alenazi, Mona, Alsaif, Hessa S., Alqahtani, Maha, AlAli, Maha, Al Ali, Hatoon, Helaby, Rana, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Alhebbi, Hamoud, Wali, Sami, Umarov, Ramzan, Gao, Xin, Alkuraya, Fowzan S.

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Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update حسب Maddirevula, Sateesh, Shamseldin, Hanan E., Sirr, Amy, AlAbdi, Lama, Lo, Russell S., Ewida, Nour, Al-Qahtani, Mashael, Hashem, Mais, Abdulwahab, Firdous, Aboyousef, Omar, Kaya, Namik, Monies, Dorota, Salem, May H., Al Harbi, Naffaa, Aldhalaan, Hesham M., Alzaidan, Hamad, Almanea, Hadeel M., Alsalamah, Abrar K., Al Mutairi, Fuad, Ismail, Samira, Abdel-Salam, Ghada M. H., Alhashem, Amal, Asery, Ali, Faqeih, Eissa, AlQassmi, Amal, Al-Hamoudi, Waleed, Algoufi, Talal, Shagrani, Mohammad, Dudley, Aimée M., Alkuraya, Fowzan S.

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Characterizing the morbid genome of ciliopathies حسب 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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Genomic and phenotypic delineation of congenital microcephaly حسب Shaheen, Ranad, Maddirevula, Sateesh, Ewida, Nour, Alsahli, Saud, Abdel-Salam, Ghada M. H., Zaki, Maha S., Tala, Saeed Al, Alhashem, Amal, 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, Mohamed, Momin, Afaque A., Saffar, Muna Al, Partlow, Jennifer N., Arold, Stefan T., Faqeih, Eissa, Walsh, Christopher, Alkuraya, Fowzan S.

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