학술논문
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'학술논문'
에서 검색결과 189건 | 목록
1~20
Academic Journal
Bakur, Khadijah; Hamid, Halima; Alhaddad, Bader; Alfadhel, Majid; Alhashem, Amal; Eyaid, Wafaa; Alanzi, Talal; Al Mutairi, Fuad; Alswaid, Abdulrahman; Ababneh, Farouq; Al Ghamdi, Malak; Mohamed, Sarar; Alaskar, Ahmed; Alqahtani, Farjah; Alzaidan, Hamad; Al-Owain, Mohammed; Faqeih, Eissa A.; Mushiba, Aziza M.; Alanazi, Rola; Almoallem, Basamat; Alsaleh, Norah Saleh; Al Tala, Saeed; Alshammari, Muneera; Turkistani, Alyazeed; Gosadi, Ghadah; Hakami, Fahad; Alobaid, Fahad; Al Rukban, Hadeel; Alfaidi, Ahmed; Ba-Abbad, Rola; Almuqbil, Mohammed A.; Al-Boukai, Ahmad; Alamri, Abdulrahman Saad; Alshehri, Ali; Sulaiman, Raashda A.; Almontasheri, Ali; Danish, Enam; AlSagheir, Afaf; Aljeaid, Deema; Al-Awam, Bashayer S.; Shawli, Aiman; Al-Otaibi, Maha; Majdali, Wed Sameer; Azher, Zohor Asaad; Almannai, Mohammed; Baalawi, Wail; AlAbdi, Lama; Benoukraf, Touati; Alkuraya, Fowzan S.
Genome Medicine. 17(1)
Academic Journal
Bayam, Efil; Tilly, Peggy; Collins, Stephan; Rivera Alvarez, José; Kannan, Meghna; Tonneau, Lucile; Brivio, Elena; Rinaldi, Bruno; Lecat, Romain; Schwaller, Noémie; Cotellessa, Ludovica; Maddirevula, Sateesh; Monteiro, Fabiola; Guardia, Carlos; Kitajima, João Paulo; Kok, Fernando; Kato, Mitsuhiro; Hamed, Ahlam; Salih, Mustafa; Al Tala, Saeed; Hashem, Mais; Tada, Hiroko; Saitsu, Hirotomo; Stabile, Mariano; Giacobini, Paolo; Friant, Sylvie; Yüksel, Zafer; Nakashima, Mitsuko; Alkuraya, Fowzan; Yalcin, Binnaz; Godin, Juliette
EMBO Mol Med
EMBO Molecular Medicine, Vol 17, Iss 1, Pp 129-168 (2024)
EMBO Molecular Medicine, Vol 17, Iss 1, Pp 129-168 (2024)
Academic Journal
Lama AlAbdi; Hanan E. Shamseldin; Ebtissal Khouj; Rana Helaby; Bayan Aljamal; Mashael Alqahtani; Aisha Almulhim; Halima Hamid; Mais O. Hashem; Firdous Abdulwahab; Omar Abouyousef; Amal Jaafar; Tarfa Alshidi; Mohammed Al-Owain; Amal Alhashem; Saeed Al Tala; Arif O. Khan; Elham Mardawi; Hisham Alkuraya; Eissa Faqeih; Manal Afqi; Salwa Alkhalifi; Zuhair Rahbeeni; Samya T. Hagos; Wijdan Al-Ahmadi; Seba Nadeef; Sateesh Maddirevula; Khalid S. A. Khabar; Alexander Putra; Angel Angelov; Changsook Park; Ana M. Reyes-Ramos; Husen Umer; Ikram Ullah; Patrick Driguez; Yoshinori Fukasawa; Ming Sin Cheung; Imed Eddine Gallouzi; Fowzan S. Alkuraya
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
Academic Journal
Afaf Alsubhi; Manar Aldarwish; Pankaj B. Agrawal; Saeed M. Al Tala; Osama Eldadah; Abdulla A. Alghamdi; Amal Silmi; Mohammed Almannai
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101027- (2024)
Academic Journal
Al-Rousan, Tala; Fredricks, Karla; Chaudhury, Sumona; Albezreh, Saeed; Alhokair, Abdulmohsen; Nelson, Brett D.
Medicine, Conflict and Survival, 2018 Sep 01. 34(3), 185-200.
Academic Journal
Broly, Martin ; Polevoda, Bogdan V. ; Awayda, Kamel M. ; Tong, Ning ; Lentini, Jenna ; Besnard, Thomas ; Deb, Wallid ; O’Rourke, Declan ; Baptista, Julia ; Ellard, Sian ; Almannai, Mohammed ; Hashem, Mais ; Abdulwahab, Ferdous ; Shamseldin, Hanan ; Al-Tala, Saeed ; Alkuraya, Fowzan S. ; Leon, Alberta ; van Loon, Rosa L.E. ; Ferlini, Alessandra ; Sanchini, Mariabeatrice ; Bigoni, Stefania ; Ciorba, Andrea ; van Bokhoven, Hans ; Iqbal, Zafar ; Al-Maawali, Almundher ; Al-Murshedi, Fathiya ; Ganesh, Anuradha ; Al-Mamari, Watfa ; Lim, Sze Chern ; Pais, Lynn S. ; Brown, Natasha ; Riazuddin, Saima ; Bézieau, Stéphane ; Fu, Dragony ; Isidor, Bertrand ; Cogné, Benjamin ; O’Connell, Mitchell R.
In The American Journal of Human Genetics 7 April 2022 109(4):587-600
Academic Journal
Wiessner, Manuela; Maroofian, Reza; Zhu, Changlian; Horvath, Rita; Houlden, Henry; Bartesaghi, Luca; Lee, Hwei-Jen; Ampatzis, Konstantinos; Pierson, Tyler Mark; Senderek, Jan; Uhrova Meszarosova, Anna; Alehabib, Elham; Bakhtiari, Somayeh; Janecke, Andreas R; Otero, Maria Gabriela; Chen, Jin Yun Helen; Peterson, James T; Strom, Tim M; De Jonghe, Peter; Ni, Meng-Yuan; Deconinck, Tine; De Ridder, Willem; De Winter, Jonathan; Pasquariello, Rossella; Ricca, Ivana; Alfadhel, Majid; van de Warrenburg, Bart P; Portier, Ruben; Bergmann, Carsten; Ghasemi Firouzabadi, Saghar; Pedroni, Andrea; Jin, Sheng Chih; Bilguvar, Kaya; Hamed, Sherifa; Abdelhameed, Mohammed; Haridy, Nourelhoda A; Maqbool, Shazia; Rahman, Fatima; Anwar, Najwa; Carmichael, Jenny; Pagnamenta, Alistair; Müller, Juliane S; Wood, Nick W; Tran Mau-Them, Frederic; Haack, Tobias; Genomics England Research Consortium, PREPARE network; Di Rocco, Maja; Ceccherini, Isabella; Iacomino, Michele; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Stucka, Rolf; Rusmini, Marta; Xu, Yiran; Wang, Yinghong; Suzuki, Yasuhiro; Koh, Kishin; Nan, Haitian; Ishiura, Hiroyuki; Tsuji, Shoji; Lambert, Laëtitia; Schmitt, Emmanuelle; Beetz, Christian; Lacaze, Elodie; Küpper, Hanna; Dredge, David; Skraban, Cara; Goldstein, Amy; Willis, Mary J H; Grand, Katheryn; Graham, John M; Lewis, Richard A; Millan, Francisca; Efthymiou, Stephanie; Duman, Özgür; Dündar, Nihal; Uyanik, Gökhan; Schöls, Ludger; Nürnberg, Peter; Nürnberg, Gudrun; Catala Bordes, Andrea; Seeman, Pavel; Kuchar, Martin; Darvish, Hossein; Santorelli, Filippo M; Rebelo, Adriana; Bouçanova, Filipa; Medard, Jean-Jacques; Chrast, Roman; Auer-Grumbach, Michaela; Alkuraya, Fowzan S; Shamseldin, Hanan; Al Tala, Saeed; Rezazadeh Varaghchi, Jamileh; Najafi, Maryam; Alfares, Ahmed A; Deschner, Selina; Gläser, Dieter; Hüttel, Wolfgang; Kruer, Michael C; Kamsteeg, Erik-Jan; Takiyama, Yoshihisa; Züchner, Stephan; Baets, Jonathan; Synofzik, Matthis; Schüle, Rebecca
Brain 144(5), 1422-1434 (2021). doi:10.1093/brain/awab041
Brain, 144, 5, pp. 1422-1434
Brain
Brain, vol 144, iss 5
Brain, 144, 5, pp. 1422-1434
Brain
Brain, vol 144, iss 5
Academic Journal
Nashabat, Marwan ; Al Qahtani, Xena S. ; Almakdob, Salwa ; Altwaijri, Waleed ; Ba-Armah, Duaa M. ; Hundallah, Khalid ; Al Hashem, Amal ; Al Tala, Saeed ; Maddirevula, Sateesh ; Alkuraya, Fowzan S. ; Tabarki, Brahim ; Alfadhel, Majid
In Seizure: European Journal of Epilepsy July 2019 69:154-172
Academic Journal
Maddirevula, Sateesh ; Alzahrani, Fatema ; Al-Owain, Mohammed ; Al Muhaizea, Mohammad A. ; Kayyali, Husam R. ; AlHashem, Amal ; Rahbeeni, Zuhair ; Al-Otaibi, Maha ; Alzaidan, Hamad I. ; Balobaid, Ameera ; El Khashab, Heba Y. ; 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, Wesam ; 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, Mohamed ; Meyer, Brian F. ; Hashem, Mais ; Shaheen, Ranad ; AlShahwan, Saad ; Alfadhel, Majid ; Ben-Omran, Tawfeg ; Al-Qattan, Mohammad M. ; Monies, Dorota ; Alkuraya, Fowzan S.
In Genetics in Medicine March 2019 21(3):736-742
Academic Journal
Maddirevula, Sateesh ; Alsahli, Saud ; Alhabeeb, Lamees ; Patel, Nisha ; Alzahrani, Fatema ; Shamseldin, Hanan E. ; Anazi, Shams ; Ewida, Nour ; Alsaif, Hessa S. ; Mohamed, Jawahir Y. ; Alazami, Anas M. ; Ibrahim, Niema ; Abdulwahab, Firdous ; Hashem, Mais ; Abouelhoda, Mohamed ; Monies, Dorota ; Al Tassan, Nada ; Alshammari, Muneera ; Alsagheir, Afaf ; Seidahmed, Mohammed Zain ; Sogati, Samira ; Aglan, Mona S ; Hamad, Muddathir H. ; Salih, Mustafa A. ; Hamed, Ahlam A. ; Alhashmi, Nadia ; Nabil, Amira ; Alfadli, Fatima ; Abdel-Salam, Ghada M.H. ; Alkuraya, Hisham ; Peitee, Winnie Ong ; Keng, W.T. ; Qasem, Abdullah ; Mushiba, Aziza M. ; Zaki, Maha S ; Fassad, Mahmoud R. ; Alfadhel, Majid ; Alexander, Saji ; Sabr, Yasser ; Temtamy, Samia ; Ekbote, Alka V ; Ismail, Samira ; Hosny, Gamal Ahmed ; Otaify, Ghada A. ; Amr, Khalda ; Al Tala, Saeed ; Khan, Arif O. ; Rizk, Tamer ; Alaqeel, Aida ; Alsiddiky, Abdulmonem ; Singh, Ankur ; Kapoor, Seema ; Alhashem, Amal ; Faqeih, Eissa ; Shaheen, Ranad ; Alkuraya, Fowzan S.
In Genetics in Medicine December 2018 20(12):1609-1616
Academic Journal
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 S.
In Genetics in Medicine April 2018 20(4):420-427
Academic Journal
John J Reynolds; Louise S Bicknell; Paula Carroll; Martin R Higgs; Ranad Shaheen; Jennie E Murray; Dimitrios K Papadopoulos; Andrea Leitch; Olga Murina; Žygimantė Tarnauskaitė; Sarah R Wessel; Anastasia Zlatanou; Audrey Vernet; Alex von Kriegsheim; Rachel M A Mottram; Clare V Logan; Hannah Bye; Yun Li; Alexander Brean; Sateesh Maddirevula; Rachel C Challis; Kassiani Skouloudaki; Agaadir Almoisheer; Hessa S Alsaif; Ariella Amar; Natalie J Prescott; Michael B Bober; Angela Duker; Eissa Faqeih; Mohammed Zain Seidahmed; Saeed Al Tala; Abdulrahman Alswaid; Saleem Ahmed; Jumana Yousuf Al-Aama; Janine Altmüller; Mohammed Al Balwi; Angela F Brady; Luciana Chessa; Helen Cox; Rita Fischetto; Raoul Heller; Bertram D Henderson; Emma Hobson; Peter Nürnberg; E Ferda Percin; Angela Peron; Luigina Spaccini; Alan J Quigley; Seema Thakur; Carol A Wise; Grace Yoon; Maha Alnemer; Pavel Tomancak; Gökhan Yigit; A Malcolm R Taylor; Martin A M Reijns; Michael A Simpson; David Cortez; Fowzan S Alkuraya; Christopher G Mathew; Andrew P Jackson; Grant S Stewart
Reynolds, J, Bicknell, L S, Carroll, P, Higgs, M R, Shaheen, R, Murray, J E, Papadopoulos, D K, Leitch, A, Murina, O, Tarnauskaite, Z, Wessel, S R, Zlatanou, A, Vernet, A, von Kriegsheim, A, Mottram, R M A, Logan, C V, Bye, H, Li, Y, Brean, A, Maddirevula, S, Challis, R C, Skouloudaki, K, Almoisheer, A, Alsaif, H S, Amar, A, Prescott, N J, Bober, M, Duker, A, Faqeih, E, Seidahmed, M Z, Tala , S A, Alswaid, A, Ahmed, S, Al -Aama, J Y, Altmuller, J, Al Balwi, M, Brady, A F, Chessa, L, Cox, H, Fischetto, R, Heller, R, Henderson, B D, Hobson, E, Nurnberg, P, Percin, E F, Peron, A, Spaccini, L, Quigley, A J, Thakur, S, Wise, C A, Yoon, G, Alnemer, M, Yigit, G, Taylor, A M R, Reijns, M A M, Simpson, M A, Cortez, D, Alkuraya, F S, Mathew, C G, Jackson, A P & Stewart, G S 2017, ' Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism ', Nature Genetics, vol. 49, no. 4, pp. 537–549 . https://doi.org/10.1038/ng.3790
Nature Genetics
Nature Genetics
Academic Journal
Monies, Dorota; Abouelhoda, Mohamed; AlSayed, Moeenaldeen; Alhassnan, Zuhair; Alotaibi, Maha; Kayyali, Husam; Al-Owain, Mohammed; Shah, Ayaz; Rahbeeni, Zuhair; Al-Muhaizea, Mohammad A.; Alzaidan, Hamad I.; Cupler, Edward; Bohlega, Saeed; Faqeih, Eissa; Faden, Maha; Alyounes, Banan; Jaroudi, Dyala; Goljan, Ewa; Elbardisy, Hadeel; Akilan, Asma; Albar, Renad; Aldhalaan, Hesham; Gulab, Shamshad; Chedrawi, Aziza; Al Saud, Bandar K; Kurdi, Wesam; Makhseed, Nawal; Alqasim, Tahani; El Khashab, Heba Y.; Al-Mousa, Hamoud; Alhashem, Amal; Kanaan, Imaduddin; Algoufi, Talal; Alsaleem, Khalid; Basha, Talal A.; Al-Murshedi, Fathiya; Khan, Sameena; Al-Kindy, Adila; Alnemer, Maha; Al-Hajjar, Sami; Alyamani, Suad; Aldhekri, Hasan; Al-Mehaidib, Ali; Arnaout, Rand; Dabbagh, Omar; Shagrani, Mohammad; Broering, Dieter; Tulbah, Maha; Alqassmi, Amal; Almugbel, Maisoon; AlQuaiz, Mohammed; Alsaman, Abdulaziz; Al-Thihli, Khalid; Sulaiman, Raashda A.; Al-Dekhail, Wajeeh; Alsaegh, Abeer; Bashiri, Fahad A.; Qari, Alya; Alhomadi, Suzan; Alkuraya, Hisham; Alsebayel, Mohammed; Hamad, Muddathir H; Szonyi, Laszlo; Abaalkhail, Faisal; Al-Mayouf, Sulaiman M.; Almojalli, Hamad; Alqadi, Khalid S.; Elsiesy, Hussien; Shuaib, Taghreed M.; Seidahmed, Mohammed Zain; Abosoudah, Ibraheem; Akleh, Hana; AlGhonaium, Abdulaziz; Alkharfy, Turki M.; Al Mutairi, Fuad; Eyaid, Wafa; Alshanbary, Abdullah; Sheikh, Farrukh R.; Alsohaibani, Fahad I.; Alsonbul, Abdullah; Al Tala, Saeed; Balkhy, Soher; Bassiouni, Randa; Alenizi, Ahmed S.; Hussein, Maged H.; Hassan, Saeed; Khalil, Mohamed; Tabarki, Brahim; Alshahwan, Saad; Oshi, Amira; Sabr, Yasser; Alsaadoun, Saad; Salih, Mustafa A.; Mohamed, Sarar; Sultana, Habiba; Tamim, Abdullah; El-Haj, Moayad; Alshahrani, Saif; Bubshait, Dalal K.; Alfadhel, Majid; Faquih, Tariq; El-Kalioby, Mohamed; Subhani, Shazia; Shah, Zeeshan; Moghrabi, Nabil; Meyer, Brian F.; Alkuraya, Fowzan S.
Hum Genet
Academic Journal
Anazi, Shams; Maddirevula, Sateesh; Salpietro, Vincenzo; Asi, Yasmine T.; Alsahli, Saud; Alhashem, Amal; Shamseldin, Hanan E.; AlZahrani, Fatema; Patel, Nisha; Ibrahim, Niema; Abdulwahab, Firdous M.; Hashem, Mais; Alhashmi, Nadia; Al Murshedi, Fathiya; Al Kindy, Adila; Alshaer, Ahmad; Rumayyan, Ahmed; Al Tala, Saeed; Kurdi, Wesam; Alsaman, Abdulaziz; Alasmari, Ali; Banu, Selina; Sultan, Tipu; Saleh, Mohammed M.; Alkuraya, Hisham; Salih, Mustafa A.; Aldhalaan, Hesham; Ben-Omran, Tawfeg; Al Musafri, Fatima; Ali, Rehab; Suleiman, Jehan; Tabarki, Brahim; El-Hattab, Ayman W.; Bupp, Caleb; Alfadhel, Majid; Al Tassan, Nada; Monies, Dorota; Arold, Stefan T.; Abouelhoda, Mohamed; Lashley, Tammaryn; Houlden, Henry; Faqeih, Eissa; Alkuraya, Fowzan S.
Human Genetics. :1-5
Academic Journal
Anazi, Shams; Maddirevula, Sateesh; Salpietro, Vincenzo; Asi, Yasmine T.; Alsahli, Saud; Alhashem, Amal; Shamseldin, Hanan E.; AlZahrani, Fatema; Patel, Nisha; Ibrahim, Niema; Abdulwahab, Firdous M.; Hashem, Mais; Alhashmi, Nadia; Al Murshedi, Fathiya; Al Kindy, Adila; Alshaer, Ahmad; Rumayyan, Ahmed; Al Tala, Saeed; Kurdi, Wesam; Alsaman, Abdulaziz; Alasmari, Ali; Banu, Selina; Sultan, Tipu; Saleh, Mohammed M.; Alkuraya, Hisham; Salih, Mustafa A.; Aldhalaan, Hesham; Ben-Omran, Tawfeg; Al Musafri, Fatima; Ali, Rehab; Suleiman, Jehan; Tabarki, Brahim; El-Hattab, Ayman W.; Bupp, Caleb; Alfadhel, Majid; Al Tassan, Nada; Monies, Dorota; Arold, Stefan T.; Abouelhoda, Mohamed; Lashley, Tammaryn; Houlden, Henry; Faqeih, Eissa; Alkuraya, Fowzan S.
Human Genetics. :1-11
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