학술논문
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'학술논문'
에서 검색결과 106건 | 목록
1~20
Academic Journal
Ken Saida; Reza Maroofian; Toru Sengoku; Tadahiro Mitani; Alistair T. Pagnamenta; Dana Marafi; Maha S. Zaki; Thomas J. O’Brien; Ehsan Ghayoor Karimiani; Rauan Kaiyrzhanov; Marina Takizawa; Sachiko Ohori; Huey Yin Leong; Gulsen Akay; Hamid Galehdari; Mina Zamani; Ratna Romy; Christopher J. Carroll; Mehran Beiraghi Toosi; Farah Ashrafzadeh; Shima Imannezhad; Hadis Malek; Najmeh Ahangari; Hoda Tomoum; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; David Murphy; Natalia Dominik; Hasnaa M. Elbendary; Karima Rafat; Sanem Yilmaz; Seda Kanmaz; Mine Serin; Deepa Krishnakumar; Alice Gardham; Anna Maw; Tekki Sreenivasa Rao; Sarah Alsubhi; Myriam Srour; Daniela Buhas; Tamison Jewett; Rachel E. Goldberg; Hanan Shamseldin; Eirik Frengen; Doriana Misceo; Petter Strømme; José Ricardo Magliocco Ceroni; Chong Ae Kim; Gozde Yesil; Esma Sengenc; Serhat Guler; Mariam Hull; Mered Parnes; Dilek Aktas; Banu Anlar; Yavuz Bayram; Davut Pehlivan; Jennifer E. Posey; Shahryar Alavi; Seyed Ali Madani Manshadi; Hamad Alzaidan; Mohammad Al-Owain; Lama Alabdi; Ferdous Abdulwahab; Futoshi Sekiguchi; Kohei Hamanaka; Atsushi Fujita; Yuri Uchiyama; Takeshi Mizuguchi; Satoko Miyatake; Noriko Miyake; Reem M. Elshafie; Kamran Salayev; Ulviyya Guliyeva; Fowzan S. Alkuraya; Joseph G. Gleeson; Kristin G. Monaghan; Katherine G. Langley; Hui Yang; Mahsa Motavaf; Saeid Safari; Mozhgan Alipour; Kazuhiro Ogata; André E.X. Brown; James R. Lupski; Henry Houlden; Naomichi Matsumoto
Genetics in Medicine. 25:90-102
Academic Journal
Dana Marafi; Jawid M Fatih; Rauan Kaiyrzhanov; Matteo P Ferla; Charul Gijavanekar; Aljazi Al-Maraghi; Ning Liu; Emily Sites; Hessa S Alsaif; Mohammad Al-Owain; Mohamed Zakkariah; Ehab El-Anany; Ulviyya Guliyeva; Sughra Guliyeva; Colette Gaba; Ateeq Haseeb; Amal M Alhashem; Enam Danish; Vasiliki Karageorgou; Christian Beetz; Alaa A Subhi; Sureni V Mullegama; Erin Torti; Monisha Sebastin; Margo Sheck Breilyn; Susan Duberstein; Mohamed S Abdel-Hamid; Tadahiro Mitani; Haowei Du; Jill A Rosenfeld; Shalini N Jhangiani; Zeynep Coban Akdemir; Richard A Gibbs; Jenny C Taylor; Khalid A Fakhro; Jill V Hunter; Davut Pehlivan; Maha S Zaki; Joseph G Gleeson; Reza Maroofian; Henry Houlden; Jennifer E Posey; V Reid Sutton; Fowzan S Alkuraya; Sarah H Elsea; James R Lupski
Brain. 145:909-924
Academic Journal
Lore Pottie; Christin S. Adamo; Aude Beyens; Steffen Lütke; Piyanoot Tapaneeyaphan; Adelbert De Clercq; Phil L. Salmon; Riet De Rycke; Alper Gezdirici; Elif Yilmaz Gulec; Naz Khan; Jill E. Urquhart; William G. Newman; Kay Metcalfe; Stephanie Efthymiou; Reza Maroofian; Najwa Anwar; Shazia Maqbool; Fatima Rahman; Ikhlass Altweijri; Monerah Alsaleh; Sawsan Mohamed Abdullah; Mohammad Al-Owain; Mais Hashem; Henry Houlden; Fowzan S. Alkuraya; Patrick Sips; Gerhard Sengle; Bert Callewaert
Newman, W & Urquhart, J 2021, 'Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome', American Journal of Human Genetics, vol. 108, no. 6, pp. 1095-1114. https://doi.org/10.1016/j.ajhg.2021.04.016
Academic Journal
Lama AlAbdi; Sateesh Maddirevula; Hanan E. Shamseldin; Ebtissal Khouj; Rana Helaby; Halima Hamid; Aisha Almulhim; Mais O. Hashem; Firdous Abdulwahab; Omar Abouyousef; Mashael Alqahtani; Norah Altuwaijri; Amal Jaafar; Tarfa Alshidi; Fatema Alzahrani; Afaf I. Al-Sagheir; Ahmad M. Mansour; Ali Alawaji; Amal Aldhilan; Amal Alhashem; Amal Alhemidan; Amira Nabil; Arif O. Khan; Aziza Aljohar; Badr Alsaleem; Brahim Tabarki; Charles Marques Lourenco; Eissa Faqeih; Essam AlShail; Fatima Almesaifri; Fuad Al Mutairi; Hamad Alzaidan; Heba Morsy; Hind Alshihry; Hisham Alkuraya; Katta Mohan Girisha; Khawla Al-Fayez; Khalid Al-Rubeaan; Lilia kraoua; Maha Alnemer; Maha Tulbah; Maha S. Zaki; Majid Alfadhel; Mohammed Abouelhoda; Marjan M. Nezarati; Mohammad Al-Qattan; Mohammad Shboul; Mohammed Abanemai; Mohammad A. Al-Muhaizea; Mohammed Al-owain; Mohammed Sameer Bafaqeeh; Muneera Alshammari; Musaad Abukhalid; Nada Alsahan; Nada Derar; Neama Meriki; Saeed A. Bohlega; Saeed Al Tala; Saad Alhassan; Sami Wali; Sarar Mohamed; Serdar Coskun; Sermin Saadeh; Tinatin Tkemaladze; Wesam Kurdi; Zainab Ahmed Alhumaidi; Zuhair Rahbeeni; Fowzan S. Alkuraya
Nat Commun
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
Academic Journal
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, Amal ; 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.
In Genetics in Medicine June 2020 22(6):1051-1060
Academic Journal
Almasseri, Zainab; Nicolas- Jilwan, Manal; Almadani, Ahmad; Al-Owain, Mohammad; Gama, Rousseau; Ainuddin Sulaiman, Raashda
Journal of Rare Diseases Research & Treatment. 5:1-5
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
Alsaif, Hessa S; Al-Owain, Mohammad; Barrios-Llerena, Martin E; Gosadi, Ghada; Binamer, Yousef; Devadason, David; Ravenscroft, Jane; Suri, Mohnish; Alkuraya, Fowzan S
The American Journal of Human Genetics. 105:1016-1022
Academic Journal
The American Journal of Human Genetics. 104:1202-1209
Academic Journal
Imtiaz, Faiqa ; Al-Mostafa, Abeer ; Allam, Rabab ; Ramzan, Khushnooda ; Al-Tassan, Nada ; Tahir, Asma I. ; Al-Numair, Nouf S. ; Al-Hamed, Mohamed H. ; Al-Hassnan, Zuhair ; Al-Owain, Mohammad ; Al-Zaidan, Hamad ; Al-Amoudi, Mohammad ; Qari, Alya ; Balobaid, Ameera ; Al-Sayed, Moeenaldeen
In Molecular Genetics and Metabolism Reports June 2017 11:17-23
Academic Journal
Jumanah Alshenaifi; Nour Ewida; Shams Anazi; Hanan E. Shamseldin; Nisha Patel; Sateesh Maddirevula; Tarfa Al‐Sheddi; Rana Alomar; Eman Alobeid; Niema Ibrahim; Mais Hashem; Firdous Abdulwahab; Minnie Jacob; Amal Alhashem; Hamad I. Alzaidan; Mohammed Z. Seidahmed; Nadia Alhashemi; Rifaat Rawashdeh; Wafaa Eyaid; Zuhair N. Al‐Hassnan; Zuhair Rahbeeni; Abdulrahman Alswaid; Adnan Hadid; Alya Qari; Dia A. Mohammed; Heba Y. El Khashab; Majid Alfadhel; Mohammad Abanemai; Rawda Sunbul; Saeed Al Tala; Salwa Alkhalifi; Turki Alkharfi; Mohamed Abouelhoda; Dorota Monies; Nada Al Tassan; Saud H. AlDubayan; Wesam Kurdi; Mohammed Al‐Owain; Majed J. Dasouki; Amal Y. Kentab; Suha Atyani; Nawal Makhseed; Eissa Faqeih; Ranad Shaheen; Fowzan S. Alkuraya
Clinical Genetics. 95:310-319
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
Ruqaiah, Altassan; Haya Al, Saud; Tariq Ahmad, Masoodi; Haya Al, Dosssari; Ola, Khalifa; Hamad, Al-Zaidan; Nadia, Sakati; Zuhair, Rhabeeni; Zuhair, Al-Hassnan; Yousef, Binamer; Nadia, Alhashemi; William, Wade; Zayed, Al-Zayed; Moeen, Al-Sayed; Mohamed A, Al-Muhaizea; Brian, Meyer; Mohammad, Al-Owain; Salma M, Wakil
American Journal of Medical Genetics Part A. 173:1009-1016
Academic Journal
Namik, Kaya; Dilek, Colak; Albandary, Albakheet; Mohammad, Al-Owain; Nada, Abu-Dheim; Banan, Al-Younes; Jawaher, Al-Zahrani; Nahit M, Mukaddes; Aysin, Dervent; Naji, Al-Dosari; Ali, Al-Odaib; Inci V, Kayaalp; Moeenaladin, Al-Sayed; Zuhair, Al-Hassnan; Michael J, Nester; Mohammad, Al-Dosari; Hesham, Al-Dhalaan; Aziza, Chedrawi; Hulya, Gunoz; Bedri, Karakas; Nadia, Sakati; Fowzan S, Alkuraya; Generaso G, Gascon; Pinar T, Ozand
Annals of Neurology. 71:498-508
Academic Journal
Namik, Kaya; Saleh, Al-Muhsen; Bandar, Al-Saud; Albandary, Al-Bakheet; Dilek, Colak; Abdulaziz, Al-Ghonaium; Hasan, Al-Dhekri; Hamoud, Al-Mousa; Rand, Arnaout; Mohammad, Al-Owain; Mohammad, Iqbal
Journal of Clinical Immunology. 31:245-252
Academic Journal
Anas M. Alazami; Nisha Patel; Hanan E. Shamseldin; Shamsa Anazi; Mohammed S. Al-Dosari; Fatema Alzahrani; Hadia Hijazi; Muneera Alshammari; Mohammed A. Aldahmesh; Mustafa A. Salih; Eissa Faqeih; Amal Alhashem; Fahad A. Bashiri; Mohammed Al-Owain; Amal Y. Kentab; Sameera Sogaty; Saeed Al Tala; Mohamad-Hani Temsah; Maha Tulbah; Rasha F. Aljelaify; Saad A. Alshahwan; Mohammed Zain Seidahmed; Adnan A. Alhadid; Hesham Aldhalaan; Fatema AlQallaf; Wesam Kurdi; Majid Alfadhel; Zainab Babay; Mohammad Alsogheer; Namik Kaya; Zuhair N. Al-Hassnan; Ghada M.H. Abdel-Salam; Nouriya Al-Sannaa; Fuad Al Mutairi; Heba Y. El Khashab; Saeed Bohlega; Xiaofei Jia; Henry C. Nguyen; Rakad Hammami; Nouran Adly; Jawahir Y. Mohamed; Firdous Abdulwahab; Niema Ibrahim; Ewa A. Naim; Banan Al-Younes; Brian F. Meyer; Mais Hashem; Ranad Shaheen; Yong Xiong; Mohamed Abouelhoda; Abdulrahman A. Aldeeri; Dorota M. Monies; Fowzan S. Alkuraya
Cell Reports, Vol 10, Iss 2, Pp 148-161 (2015)
Academic Journal
In Pediatric Neurology October 2013 49(4):232-236
Academic Journal
Anas M, Alazami; Mohammad, Al-Owain; Fatema, Alzahrani; Taghreed, Shuaib; Hussain, Al-Shamrani; Yahya H, Al-Falki; Saleh M, Al-Qahtani; Tarfa, Alsheddi; Dilek, Colak; Fowzan S, Alkuraya
Human Mutation. 33:1429-1434
Academic Journal
Taghreed, Shuaib; Nadia, Al-Hashmi; Mohammad, Ghaziuddin; Eman, Megdad; Dejene, Abebe; Amr, Al-Saif; Alaa, Doubi; Hesham, Aldhalaan; Mohei Eldin, Abouzied; Mohammed, Al-Owain
Journal of Child Neurology. 27:799-803
Academic Journal
Ozand, Pinar T.; Al-Sayed, Moeen; Al-Zahrani, Jawaher; Alkuraya, Fowzan S.; Milanlıoğlu, Aysel; Kaya, Namik; AbuDheim, Nada; Al-Owain, Mohammad; Colak, Dilek
American Journal of Medical Genetics Part A. 155:1281-1284
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[검색어] Al-Owain, Mohammad
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