학술논문
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'학술논문'
에서 검색결과 627건 | 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
Woodward, Beth L.; Lahiri, Sudipta; Chauhan, Anoop S.; Garcia, Marcos Rios; Goodley, Lucy E.; Clarke, Thomas L.; Pal, Mohinder; Agathanggelou, Angelo; Jhujh, Satpal S.; Ganesh, Anil N.; Hollins, Fay M.; Deforie, Valentina Galassi; Maroofian, Reza; Efthymiou, Stephanie; Meinhardt, Andrea; Mathew, Christopher G.; Simpson, Michael A.; Mefford, Heather C.; Faqeih, Eissa A.; Rosenzweig, Sergio D.; Volpi, Stefano; Di Matteo, Gigliola; Cancrini, Caterina; Scardamaglia, Annarita; Shackley, Fiona; Davies, E. Graham; Ibrahim, Shahnaz; Arkwright, Peter D.; Zaki, Maha S.; Stankovic, Tatjana; Taylor, A. Malcolm R.; Mazur, Antonina J.; Di Donato, Nataliya; Houlden, Henry; Rothenberg, Eli; Stewart, Grant S.
Nature Communications. 16(1)
Academic Journal
Clinical Case Reports. February 8, 2026, Vol. 14 Issue 2
Academic Journal
Afaf Alsagheir; Ali Mcrabi; Meshari Alquayt; Raghad Alhuthil; Afnan Alawi; Eissa Faqeih; Abrar Turki Alabdullatif; Doua Al Homyani; Amal AlJohany; Mariam AlOtaibi; Magdy Rabea; Hassan AlSayed; Mohamed H. Al-Hamed
Frontiers in Genetics, Vol 16 (2026)
Academic Journal
Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Hannah, Michael G.; Bugiardini, Enrico; Bertini, Enrico; Kriouile, Yamna; El-Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Karashova, Blagovesta M.; Goraya, Jatinder S.; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Lanari, Marcello; Savasta, Salvatore; Macaya, Alfons; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Papanicolaou, Eleni Z.; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat N.; Atawneh, Osama; Lim, Shen-Yang; Zuccotti, Gian V.; Marseglia, Gian L.; Esposito, Susanna; Shaikh, Farooq; Cogo, Paola; Corsello, Giovanni; Mangano, Salvatore; Nardello, Rosaria; Mangano, Donato; Scardamaglia, Annarita; Koutsis, George; Scuderi, Carmela; Ferrara, Pietro; Morello, Giovanna; Zollo, Massimo; Berni-Canani, Roberto; Terracciano, Luigi M.; Sisto, Antonio; Di Fabio, Sandra; Strano, Federica; Scorrano, Giovanna; Di Bella, Saverio; Di Francesco, Ludovica; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Fiorillo, Chiara; Iacomino, Michele; Gaudio, Eugenio; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Iughetti, Lorenzo; Di Rosa, Gabriella; Maghnie, Mohamad; Pettoello-Mantovani, Massimo; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Bottone, Gabriella; Farello, Giovanni; Delvecchio, Maurizio; Di-Donato, Giulio; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Miraglia-Del-Giudice, Michele; Maccarone, Rita; Triki, Chahnez C.; Kara, Majdi; Karimiani, Ehsan G.; Salih, Ahmed M.; Ramenghi, Luca A.; Seri, Marco; Di-Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elisa, Maurizio; Cherubini, Enrico; Operto, Francesca F.; Valenzise, Mariella; Cattaneo, Antonino; Zazzeroni, Francesca; Alesse, Edoardo; Matricardi, Sara; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Rahman, Fatima; Ahmed, Muhammad M.; Parisi, Pasquale; Spalice, Alberto; De Filippo, Maria; Licari, Amelia; Trebbi, Edoardo; Romano, Ferdinando; Heimer, Gali; Al-Khawaja, Issam; Al-Mutairi, Fuad; Alkuraya, Fowzan S.; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Jepson, James E. C.; Houlden, Henry
Am J Hum Genet
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
Academic Journal
AlAbdi, Lama; Neuhann, Teresa; Prott, Eva-Christina; Schön, Ulrike; Abdulwahab, Firdous; Faqeih, Eissa; Alkuraya, Fowzan S.
Human Genetics. June 2024, Vol. 143 Issue 6, p739, 7 p.
Academic Journal
Lace, Baiba; Faqeih, Eissa; Kaya, Namik; Krumina, Zita; Mayr, Johannes A.; Micule, Ieva; Wright, Nathan Thompson; Achleitner, Melanie T.; Alqudairy, Hanan; Pajusalu, Sander; Stavusis, Janis; Zayakin, Pawel; Inashkina, Inna
JIMD Reports. September, 2024, Vol. 65 Issue 5, p297, 8 p.
Academic Journal
Alhashem, Amal; Alqudairy, Hanan; Raed, Jana; Al Bulushi, Bashaer; Faqeih, Eissa; Alotbi, Rafa; Al Mutairi, Fuad; Alfadhel, Majid; Alkuraya, Fowzan; Kaya, Namik
Academic Journal
Saleh, Mohammed M., MD; Hamhom, Abdulrahim M., MD; Al-Otaibi, Ali, MD; AlGhamdi, Malak, MD; Housawi, Yousef, MD; Aljadhai, Yaser I., MD; Alameer, Seham, MD; Almannai, Mohammed, MD; Jad, Lamyaa A., MD; Alwadei, Ali H., MD; Tabassum, Sadia, MD; Alsaman, Abdulaziz, MD; AlAsmari, Ali, MD; Al Mutairi, Fuad, MD; Althiyab, Hamad, MD; Bashiri, Fahad A., MD; AlHumaidi, Suzan, MD; Alfadhel, Majid, MD; Mink, Jonathan W., MD, PhD; AlHashim, Aqeela, MD; Faqeih, Eissa A., MD; Kentab, Amal; Muddathir, H.H.; Salih, M.A.; Mushiba, Aziza M.; Zada, A.P.; Bamajboor, Mohammed S.; Zameer, Sadique; AlBassam, Fahad; Mahmoud, Adel; Alnawfal, A.A.; AlAmr, Mushari; Bawazir, Maryam; Al Rumayyan, Ahmed; Al-Twaijri, Waleed; Alrifai, Muhammed Talal; Al Hajjaj, Sumayah
Pediatric Neurology. 155:149-155
Academic Journal
Alshehri, Abdullah S.; Peer-Zada, Abdul A.; Algadhi, Abeer A.; Aldehaimi, Abdulwahed; Saleh, Mohammed A.; Mushiba, Aziza M.; Faqeih, Eissa A.; AlAsmari, Ali M.
International Journal of Neonatal Screening. December, 2024, Vol. 10 Issue 4
Academic Journal
Maddirevula, Sateesh ; Shagrani, Mohammad ; Ji, Ae-Ri ; Horne, Christopher R. ; Young, Samuel N. ; Mather, Lucy J. ; Alqahtani, Mashael ; McKerlie, Colin ; Wood, Geoffrey ; Potter, Paul K. ; Abdulwahab, Firdous ; AlSheddi, Tarfa ; van der Woerd, Wendy L. ; van Gassen, Koen L.I. ; AlBogami, Dalal ; Kumar, Kishwer ; Muhammad Akhtar, Ali Syed ; Binomar, Hiba ; Almanea, Hadeel ; Faqeih, Eissa ; Fuchs, Sabine A. ; Scott, John W. ; Murphy, James M. ; Alkuraya, Fowzan S.
In Genetics in Medicine November 2024 26(11)
Academic Journal
Arts, Rob J.W. ; Bijker, Else M. ; Bruno, Mariolina ; Hobo, Willemijn ; Hoppenreijs, Esther ; de Jonge, Marien I. ; van Laarhoven, Arjan ; van der Molen, Renate ; Oud, Manon ; Schatorje, Ellen J.H. ; Smeets, Ruben ; Sprenkeler, Evelien G.G. ; Stol, Kim ; Verhagen, Lilly M. ; Zonneveld-Huijssoon, Evelien ; Vorsteveld, Emil E. ; Van der Made, Caspar I. ; Smeekens, Sanne P. ; Schuurs-Hoeijmakers, Janneke H. ; Astuti, Galuh ; Diepstra, Heleen ; Gilissen, Christian ; Hoenselaar, Evelien ; Janssen, Alice ; van Roozendaal, Kees ; Engelen, Jettie Sikkema-van ; Steyaert, Wouter ; Weiss, Marjan M. ; Yntema, Helger G. ; Mantere, Tuomo ; AlZahrani, Mofareh S. ; van Aerde, Koen ; Derfalvi, Beata ; Faqeih, Eissa Ali ; Henriet, Stefanie S.V. ; van Hoof, Elise ; Idressi, Eman ; Issekutz, Thomas B. ; Jongmans, Marjolijn C.J. ; Keski-Filppula, Riikka ; Krapels, Ingrid ; te Loo, Maroeska ; Mulders-Manders, Catharina M. ; ten Oever, Jaap ; Potjewijd, Judith ; Sarhan, Nora Tarig ; Slot, Marjan C. ; Terhal, Paulien A. ; Thijs, Herman ; Vandersteen, Anthony ; Vanhoutte, Els K. ; van de Veerdonk, Frank ; van Well, Gijs ; Netea, Mihai G. ; Simons, Annet ; Hoischen, Alexander
In Clinical Immunology November 2024 268
Academic Journal
Abdulrahman Al-Hussaini; Mohammed AlMannai; Muhannad Alruwaithi; Eissa Faqeih; Ali Alasmari; Majid Alfadhel; Fuad Al Mutairi; Mohammed Saleh; Abdullah AlZaben; Yaser Alobailan; Moodhi Alharbi; Manal AlAfqi; Alaa Alayed; Abdul Ali Peer-Zada; Yasir Alrusayni
PLoS ONE, Vol 20, Iss 7 (2025)
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
Academic Journal
Li, Niu ; Xu, Yufei ; Chen, Hongzhu ; Lin, Jingqi ; AlAbdi, Lama ; Bekheirnia, Mir Reza ; Li, Guoqiang ; Gofin, Yoel ; Bekheirnia, Nasim ; Faqeih, Eissa ; Chen, Lina ; Chang, Guoying ; Tang, Jie ; Yao, Ruen ; Yu, Tingting ; Wang, Xiumin ; Fu, Wei ; Fu, Qihua ; Shen, Yiping ; Alkuraya, Fowzan S. ; Machol, Keren ; Wang, Jian
In eBioMedicine January 2024 99
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
Sydney A. Lau; Romy I. Fawaz; Robert Rigobello; Shahad Bawazeer; Nouf M. Alajaji; Eissa Faqeih; Yanchun Li; Yanming Feng; Fan Xia; Christine M. Eng; Malak Abedalthagafi
Frontiers in Medicine, Vol 11 (2024)
Academic Journal
Averdunk, Luisa ; Huetzen, Maxim A. ; Moreno-Andrés, Daniel ; Kalb, Reinhard ; McKee, Shane ; Hsieh, Tzung-Chien ; Seibt, Annette ; Schouwink, Marten ; Lalani, Seema ; Faqeih, Eissa Ali ; Brunet, Theresa ; Boor, Peter ; Neveling, Kornelia ; Hoischen, Alexander ; Hildebrandt, Barbara ; Graf, Elisabeth ; Lu, Linchao ; Jin, Weidong ; Schaper, Joerg ; Omer, Jamal A. ; Demaret, Tanguy ; Fleischer, Nicole ; Schindler, Detlev ; Krawitz, Peter ; Mayatepek, Ertan ; Wieczorek, Dagmar ; Wang, Lisa L. ; Antonin, Wolfram ; Jachimowicz, Ron D. ; von Felbert, Verena ; Distelmaier, Felix
In Genetics in Medicine July 2023 25(7)
Academic Journal
Carolina Gracia-Diaz; Yijing Zhou; Qian Yang; Reza Maroofian; Paula Espana-Bonilla; Chul-Hwan Lee; Shuo Zhang; Natàlia Padilla; Raquel Fueyo; Elisa A. Waxman; Sunyimeng Lei; Garrett Otrimski; Dong Li; Sarah E. Sheppard; Paul Mark; Margaret H. Harr; Hakon Hakonarson; Lance Rodan; Adam Jackson; Pradeep Vasudevan; Corrina Powel; Shehla Mohammed; Sateesh Maddirevula; Hamad Alzaidan; Eissa A. Faqeih; Stephanie Efthymiou; Valentina Turchetti; Fatima Rahman; Shazia Maqbool; Vincenzo Salpietro; Shahnaz H. Ibrahim; Gabriella di Rosa; Henry Houlden; Maha Nasser Alharbi; Nouriya Abbas Al-Sannaa; Peter Bauer; Giovanni Zifarelli; Conchi Estaras; Anna C. E. Hurst; Michelle L. Thompson; Anna Chassevent; Constance L. Smith-Hicks; Xavier de la Cruz; Alexander M. Holtz; Houda Zghal Elloumi; M J Hajianpour; Claudine Rieubland; Dominique Braun; Siddharth Banka; Genomic England Research Consortium; Deborah L. French; Elizabeth A. Heller; Murielle Saade; Hongjun Song; Guo-li Ming; Fowzan S. Alkuraya; Pankaj B. Agrawal; Danny Reinberg; Elizabeth J. Bhoj; Marian A. Martínez-Balbás; Naiara Akizu
Nature Communications, Vol 14, Iss 1, Pp 1-18 (2023)
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[검색어] Faqeih, Eissa A.
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