학술논문
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'학술논문'
에서 검색결과 221건 | 목록
1~20
Academic Journal
Malak, Alghamdi; Essa, Alharbi; Salman, Aljarallah; Ghaida, Alghamdi; Reham M, Balahmar; Nisserin, Jado; Hebattalah, Hamed; Dima, Jamjoom; Fahad A, Bashiri; Naif A M, Almontashiri
Journal of Human Genetics. 70:365-370
Academic Journal
Ikram Chekroun; Shruti Shenbagam; Mohamed A. Almarri; Younes Mokrab; Mohammed Uddin; Omer S. Alkhnbashi; Maha S. Zaki; Hossein Najmabadi; Kimia Kahrizi; Khalid A. Fakhro; Naif A. M. Almontashiri; Fahad R. Ali; Uğur Özbek; Bruno Reversade; Fowzan S. Alkuraya; Alawi Alsheikh-Ali; Ahmad N. Abou Tayoun
Nature Genetics. 57:505-514
Academic Journal
Levine, Jesse M. ; Calame, Daniel G. ; Sangermano, Riccardo ; Du, Haowei ; Saad, Ahmed ; Lisfeld, Jasmin ; Bierhals, Tatjana ; Denecke, Jonas ; Uctepe, Eyyup ; Celik, Merve Yoldas ; Yesilyurt, Ahmet ; Yildiz Er, Hilal ; Yilmaz Gulec, Elif ; Mushiba, Aziza ; Almontashiri, Naif ; Gawlinski, Pawel ; Wiszniewski, Wojciech ; Karaca, Ender ; Alabdi, Lama ; Pehlivan, Davut ; Marafi, Dana ; Zaki, Maha S. ; Alkuraya, Fowzan S. ; Gleeson, Joseph G. ; Jhangiani, Shalini N. ; Gibbs, Richard A. ; Posey, Jennifer E. ; Bujakowska, Kinga M. ; Lupski, James R.
In The American Journal of Human Genetics 5 February 2026 113(2):362-379
Academic Journal
Chacon-Millan, Pilar ; Delicato, Antonella ; Mahmood, Arif ; Tirozzi, Alfonsina ; Monfregola, Jlenia ; Duroure, Karine ; Serafini, Malo ; Kroll, François ; El-hage, Océane ; Salah, Somaya ; Atawneh, Osama M. ; Atik, Tahir ; Durmusalioglu, Enise Avcı ; Isik, Esra ; Almontashiri, Naif A.M. ; Tabarki, Brahim ; Kanaan, Moien ; Rabie, Grace ; Torella, Annalaura ; Spampanato, Carmine ; Battaglia, Domenica Immacolata ; Begemann, Anais ; Steindl, Katharina ; Rauch, Anita ; Zweier, Markus ; Hajianpour, Mj ; Brigatti, Karlla W. ; Alhashem, Amal ; Maroofian, Reza ; Feigerlova, Eva ; Lambert, Laetitia ; Feillet, Francois ; Abbott, Mary-Alice ; D’Alessio, Alfonso Manuel ; Gonzaga-Jauregui, Claudia ; Tawk, Marcel ; De Matteis, Maria Antonietta ; Del Bene, Filippo ; Zollino, Marcella ; Nigro, Vincenzo ; Venditti, Rossella ; Franco, Brunella ; Morleo, Manuela
In The American Journal of Human Genetics 5 March 2026 113(3):562-581
Academic Journal
Abu-Amero, Khaled K.; Kondkar, Altaf A.; Almontashiri, Naif A. M.; Khan, Abdullah M.; Maktabi, Azza M. Y.; Hameed, Syed; AlMesfer, Saleh
Genes. September, 2025, Vol. 16 Issue 9
Academic Journal
Naif A. M. Almontashiri; Essa Alharby; Mohammed Saleh; Mohamed Abu‐Farha; Ali Alasmari; Marinella Gebbia; Charlotte Hiesl; Roy W. A. Peake; Sami Samir Amr; Eckhard Boles; Frederick P. Roth; Jehad Abubaker
Clinical Genetics. 107:201-207
Academic Journal
Alghamdi, Malak ; Alahmad, Ahmad ; Alaboudi, Malak ; Alsheikh, Sulaiman ; Alanazy, Mohammed H. ; Albash, Buthaina ; Alaqeel, Ahmad ; Almontashiri, Naif A. ; Jamjoom, Dima ; Bashiri, Fahad A. ; Hamad, Muddathir H. ; Ali, Hebatallah H. ; Alwatidi, Mohammed ; Alharbi, Essa ; Omar, Sherief ; Marafi, Dana ; Alabdulrazzaq, Fatima ; Arold, Stefan T. ; McFarland, Robert ; W.Taylor, Robert
In Molecular Genetics and Metabolism June 2026 148(2)
Academic Journal
Clinical Genetics. 107:477-479
Academic Journal
Szenker-Ravi, Emmanuelle ; Ott, Tim ; Yusof, Amirah ; Chopra, Maya ; Khatoo, Muznah ; Pak, Beatrice ; Xuan Goh, Wei ; Beckers, Anja ; Brady, Angela F. ; Ewans, Lisa J. ; Djaziri, Nabila ; Almontashiri, Naif A.M. ; Alghamdi, Malak Ali ; Alharby, Essa ; Dasouki, Majed ; Romo, Lindsay ; Tan, Wen-Hann ; Maddirevula, Sateesh ; Alkuraya, Fowzan S. ; Giordano, Jessica L. ; Alkelai, Anna ; Wapner, Ronald J. ; Stals, Karen ; Alfadhel, Majid ; Alswaid, Abdulrahman Faiz ; Bogusch, Susanne ; Schafer-Kosulya, Anna ; Vogel, Sebastian ; Vick, Philipp ; Schweickert, Axel ; Wakeling, Matthew ; Moreau de Bellaing, Anne ; Alshamsi, Aisha M. ; Sanlaville, Damien ; Mbarek, Hamdi ; Saad, Chadi ; Ellard, Sian ; Eisenhaber, Frank ; Tripolszki, Kornelia ; Beetz, Christian ; Bauer, Peter ; Gossler, Achim ; Eisenhaber, Birgit ; Blum, Martin ; Bouvagnet, Patrice ; Bertoli-Avella, Aida ; Amiel, Jeanne ; Gordon, Christopher T. ; Reversade, Bruno
In The American Journal of Human Genetics 6 February 2025 112(2):353-373
Academic Journal
Navin B. Ramakrishna; Yoshikazu Johmura; Nur Ain Ali; Umar Bin Mohamad Sahari; Malak Alghamdi; Peter Bauer; Suliman Khan; Natalia Ordoñez; Mariana Ferreira; Jorge Pinto Basto; Fowzan S. Alkuraya; Eissa Ali Faqeih; Mari Mori; Naif A. M. Almontashiri; Aisha Al Shamsi; Gehad ElGhazali; Hala Abu Subieh; Mode Al Ojaimi; Ayman W. El-Hattab; Said Ahmed Said Al-Kindi; Nadia Alhashmi; Fahad Alhabshan; Abdulaziz Al Saman; Hala Tfayli; Mariam Arabi; Simone Khalifeh; Alan Taylor; Majid Alfadhel; Ruchi Jain; Shruti Sinha; Shruti Shenbagam; Revathy Ramachandran; Umut Altunoğlu; Anju Jacob; Nandu Thalange; Jay W. Shin; Almundher Al-Maawali; Azza Al-Shidhani; Amna Al-Futaisi; Fatma Rabea; Ikram Chekroun; Mohamed Al Marri; Tomohiko Ohta; Makoto Nakanishi; Alawi Alsheikh-Ali; Fahad R. Ali; Aida M. Bertoli-Avella; Bruno Reversade; Ahmad Abou Tayoun
Academic Journal
Lavillaureix, Alinoë ; Rollier, Paul ; Kim, Artem ; Panasenkava, Veranika ; De Tayrac, Marie ; Carré, Wilfrid ; Guyodo, Hélène ; Faoucher, Marie ; Poirel, Elisabeth ; Akloul, Linda ; Quélin, Chloé ; Whalen, Sandra ; Bos, Jessica ; Broekema, Marjoleine ; van Hagen, Johanna M. ; Grand, Katheryn ; Allen-Sharpley, Michelle ; Magness, Emily ; McLean, Scott D. ; Kayserili, Hülya ; Altunoglu, Umut ; En Qi Chong, Angie ; Xue, Shifeng ; Jeanne, Médéric ; Almontashiri, Naif ; Habhab, Wisam ; Vanlerberghe, Clemence ; Faivre, Laurence ; Viora-Dupont, Eléonore ; Philippe, Christophe ; Safraou, Hana ; Laffargue, Fanny ; Mittendorf, Luisa ; Abou Jamra, Rami ; Patil, Siddaramappa Jagdish ; Dalal, Ashwin ; Sarma, Asodu Sandeep ; Keren, Boris ; Reversade, Bruno ; Dubourg, Christèle ; Odent, Sylvie ; Dupé, Valérie
In Genetics in Medicine July 2024 26(7)
Academic Journal
Muhammad Shuaib; Sabir Adroub; Tobias Mourier; Sara Mfarrej; Huoming Zhang; Luke Esau; Afrah Alsomali; Fadwa S Alofi; Adeel Nazir Ahmad; Abbas Shamsan; Asim Khogeer; Anwar M. Hashem; Naif A. M. Almontashiri; Sharif Hala; Arnab Pain
Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
Academic Journal
Maroofian, Reza; Ortigoza-Escobar, Juan Dario; Rohilla, Pooja; Alvi, Javeria Raza; Mushiba, Aziza M.; Almontashiri, Naif A. M.; Efthymiou, Stephanie; Sultan, Tipu; Balla, Tamas; Houlden, Henry
Academic Journal
Faqeih, Eissa A. ; Alghamdi, Malak Ali ; Almahroos, Marwa A. ; Alharby, Essa ; Almuntashri, Makki ; Alshangiti, Amnah M. ; Clément, Prouteau ; Calame, Daniel G. ; Qebibo, Leila ; Burglen, Lydie ; Doco-Fenzy, Martine ; Mastrangelo, Mario ; Torella, Annalaura ; Manti, Filippo ; Nigro, Vincenzo ; Alban, Ziegler ; Alharbi, Ghadeer Saleh ; Hashmi, Jamil Amjad ; Alraddadi, Rawya ; Alamri, Razan ; Mitani, Tadahiro ; Magalie, Barth ; Coban-Akdemir, Zeynep ; Geckinli, Bilgen Bilge ; Pehlivan, Davut ; Romito, Antonio ; Karageorgou, Vasiliki ; Martini, Javier ; Colin, Estelle ; Bonneau, Dominique ; Bertoli-Avella, Aida ; Lupski, James R. ; Pastore, Annalisa ; Peake, Roy W.A. ; Dallol, Ashraf ; Alfadhel, Majid ; Almontashiri, Naif A.M.
In Genetics in Medicine February 2023 25(2)
Academic Journal
Eric Olinger; Intisar Al Alawi; Mohammed S. Al Riyami; Isa Al Salmi; Elisa Molinari; Eissa Ali Faqeih; Mohamed H. Al‐Hamed; Miguel Barroso‐Gil; Laura Powell; Abdulrahman A. Al‐Hussaini; Khawla A. Rahim; Naif A. M. Almontashiri; Colin Miles; Shirlee Shril; Friedhelm Hildebrandt; Genomics England Research Consortium; Ian J. Wilson; John A. Sayer
Human mutation, Vol. 42, no.10, p. 1221-1228 (2021)
Academic Journal
Ramakrishna, Navin B.; Sahari, Umar Bin Mohamad; Johmura, Yoshikazu; Ali, Nur Ain; Alghamdi, Malak; Bauer, Peter; Khan, Suliman; Ordonez, Natalia; Ferreira, Mariana; Basto, Jorge Pinto; Alkuraya, Fowzan S.; Faqeih, Eissa Ali; Mori, Mari; Almontashiri, Naif A. M.; Al Shamsi, Aisha; Elghazali, Gehad; Abu Subieh, Hala; Al Ojaimi, Mode; El-Hattab, Ayman W.; Al-Kindi, Said Ahmed Said; Alhashmi, Nadia; Alhabshan, Fahad; Al Saman, Abdulaziz; Tfayli, Hala; Arabi, Mariam; Khalifeh, Simone; Taylor, Alan; Alfadhel, Majid; Jain, Ruchi; Sinha, Shruti; Shenbagam, Shruti; Ramachandran, Revathy; Altunoglu, Umut; Jacob, Anju; Thalange, Nandu; El Bejjani, Mireille; Perrin, Arnaud; Shin, Jay W.; Al-Maawali, Almundher; Al-Shidhani, Azza; Al-Futaisi, Amna; Rabea, Fatma; Chekroun, Ikram; Almarri, Mohamed A.; Ohta, Tomohiko; Nakanishi, Makoto; Alsheikh-Ali, Alawi; Ali, Fahad R.; Bertoli-Avella, Aida M.; Reversade, Bruno; Abou Tayoun, Ahmad
Academic Journal
Masateru Takahashi; Muhammad Tehseen; Rahul Salunke; Etsuko Takahashi; Sara Mfarrej; Mohamed A. Sobhy; Fatimah S. Alhamlan; Sharif Hala; Gerardo Ramos-Mandujano; Ahmed A. Al-Qahtani; Fadwa S. Alofi; Afrah Alsomali; Anwar M. Hashem; Asim Khogeer; Naif A. M. Almontashiri; Jae Man Lee; Hiroaki Mon; Kosuke Sakashita; Mo Li; Takahiro Kusakabe; Arnab Pain; Samir M. Hamdan
ACS Omega
ACS Omega, Vol 6, Iss 11, Pp 7374-7386 (2021)
ACS Omega, Vol 6, Iss 11, Pp 7374-7386 (2021)
Academic Journal
Bi, Chongwei ; Ramos-Mandujano, Gerardo ; Tian, Yeteng ; Hala, Sharif ; Xu, Jinna ; Mfarrej, Sara ; Esteban, Concepcion Rodriguez ; Delicado, Estrella Nuñez ; Alofi, Fadwa S. ; Khogeer, Asim ; Hashem, Anwar M. ; Almontashiri, Naif A.M. ; Pain, Arnab ; Izpisua Belmonte, Juan Carlos ; Li, Mo
In Med 11 June 2021 2(6):689-700
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[검색어] Naif A M Almontashiri
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