학술논문
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'학술논문'
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1~20
Academic Journal
Harms, Frederike L.; Müller, Christian; Kortüm, Fanny; Hempel, Maja; Alawi, Malik; Zaki, Maha S.; Elhossini, Rasha M.; Abdel-Hamid, Mohamed S.; AlAbdi, Lama; Alkuraya, Fowzan S.; Kurdi, Wesam; Celse, Tristan; Spodenkiewicz, Marta; Laurens, Tiphany; Dieterich, Klaus; Jagadeesh, Sujatha; Salvankar, Sandesh; Girisha, Katta M.; Kutsche, Kerstin
European Journal of Human Genetics. 33(12):1616-1626
Academic Journal
Alfares, Ahmed; Imtiaz, Faiqa; Maddirevula, Sateesh; Moghrabi, Nabil; Alhamdoosh, Monther; Alazami, Anas M.; Alowain, Mohammed; Alsuwaidan, Abdullah; Alsedairy, Sultan; Meyer, Brian F.; Abouelhoda, Mohamed; Bindayel, Ibtisam; Alkuraya, Fowzan S.; Baz, Salah M.; Mallawi, Yaseen
Nature Genetics. :1-4
Academic Journal
Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D.; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H.; Marshall, Christian R.; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R.; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C.; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J.; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J.; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M.; de Kruiff, Chris C.; Rajabi, Farrah; Rodan, Lance H.; Coury, Stephanie A.; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L.; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P.; Kraemer, Dennis; Prada, Carlos E.; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G. Christoph; Bamshad, Michael J.; Campeau, Philippe M.; Lehman, Anna; Hendon, Laura G.; Wentzensen, Ingrid M.; Monaghan, Kristin G.; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D.; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C.; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K.; Seeley, Andrea H.; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J.; Washington, Camerun; Stevens, Servi J. C.; Heijligers, Malou; Alkuraya, Fowzan S.; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P.; Kühn, Andrea A.; Thoms, Sven; Morrie, Ryan D.; Mekhoubad, Shila; Green, Eric M.; Barmada, Sami J.; Gitler, Aaron D.; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S.; Rauch, Anita; Lipstein, Noa
Nature Genetics. :1-14
Academic Journal
Harkness, J. Robert; McDermott, John H.; Marsden, Shea; Jamieson, Peter; Metcalfe, Kay A.; Khan, Naz; Macken, William L.; Pitceathly, Robert D.S.; Record, Christopher J.; Maroofian, Reza; Kleopa, Kleopas; Christodoulou, Kyproula; Sabir, Ataf; Islam, Lily; Santra, Saikat; Durmusalioglu, Enise Avci; Atik, Tahir; Isik, Esra; Cogulu, Ozgur; Urquhart, Jill E.; Beaman, Glenda M.; Demain, Leigh A.; Jackson, Adam; Blakes, Alexander J.M.; Byers, Helen J.; Bennett, Hayley; Lin, Wei Hsiang; Adamson, Antony; Patel, Sanjai; Yue, Wyatt W.; Taylor, Robert W.; Reunert, Janine; Marquardt, Thorsten; Buchert, Rebecca; Haack, Tobias; Losch, Heike; Ryba, Lukas; Lassuthova, Petra; Valkovičová, Radka; Haberlová, Jana; Lauerová, Barbora; Trúsiková, Eva; Polavarapu, Kiran; Kilicarslan, Ozge Aksel; Lochmüller, Hanns; Zamani, Mina; Chamanrou, Niloofar; Shariati, Gholamreza; Sadeghian, Saeid; Azizimalamiri, Reza; Maddirevula, Sateesh; AlMuhaizea, Muhammad; Alkuraya, Fowzan S.; Horvath, Rita; Gungor, Serdal; Manzur, Adnan; Munot, Pinki; Matthews, Rachael; Banka, Siddharth; Reilly, Mary M.; Bennett, Daimark; O'Keefe, Raymond T.; Newman, William G.
Harkness, J R, McDermott, J H, Marsden, S , Jamieson, P, Metcalfe, K A, Khan, N, Macken, W L, Pitceathly, R D S , Record, C J, Maroofian, R, Kleopa, K, Christodoulou, K, Sabir, A, Islam, L, Santra, S , Durmusalioglu, E A, Atik, T, Isik, E, Cogulu, O, Urquhart, J E, Beaman, G M, Demain, L A, Jackson, A, Blakes, A J M, Byers, H J, Bennett, H, Lin, W H, Adamson, A, Patel, S , Yue, W W, Taylor, R W, Reunert, J, Marquardt, T, Buchert, R, Haack, T, Losch, H, Ryba, L, Lassuthova, P, Valkovičová, R, Haberlová, J, Lauerová, B, Trúsiková, E, Polavarapu, K, Kilicarslan, O A, Lochmüller, H, Zamani, M, Chamanrou, N, Shariati, G, Sadeghian, S , Azizimalamiri, R, Maddirevula, S , AlMuhaizea, M, Alkuraya , F S , Horvath, R, Gungor, S , Manzur, A, Munot, P, Matthews, R, Banka, S , Reilly, M M, Bennett, D, O'Keefe, R T & Newman, W G 2025, 'Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants : a case series', The Lancet Neurology, vol. 24, no. 8, pp. 667-680. https://doi.org/10.1016/S1474-4422(25)00198-X
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
Dardas, Zain; Harrold, Laura; Calame, Daniel G.; Salter, Claire G.; Kikuma, Takashi; Guay, Kevin P.; Ng, Bobby G.; Sano, Kanae; Saad, Ahmad K.; Du, Haowei; Sangermano, Riccardo; Patankar, Sohil G.; Jhangiani, Shalini N.; Gursoy, Semra; Abdel-Hamid, Mohamed S.; Ahmed, Mahmoud K.H.; Maroofian, Reza; Kaiyrzhanov, Rauan; Salayev, Kamran; Jones, Wendy D.; Caballero, Ana Perez; McGavin, Lucy; Spiller, Michael; Durkie, Miranda; Wood, Nick; O'Grady, Lauren; Goldenberg, Paula; Neumeyer, Ann M.; Begtrup, Amber; Abdel-Ghafar, Sherif F.; Zaki, Maha S.; Van Esch, Hilde; Posey, Jennifer E.; Wenger, Olivia K.; Scott, Ethan M.; Bujakowska, Kinga M.; Gibbs, Richard A.; Pehlivan, Davut; Marafi, Dana; Leslie, Joseph S.; Ubeyratna, Nishanka; Day, Jacob; Owens, Martina; Settle, Jessica; Balkhy, Soher; Tamim, Abdullah; Alabdi, Lama; Alkuraya, Fowzan S.; Takeda, Yoichi; Freeze, Hudson H.; Hebert, Daniel N.; Lupski, James R.; Crosby, Andrew H.; Baple, Emma L.
Am J Hum Genet
Academic Journal
Ni, Chunyang; Wei, Yudong; Vona, Barbara; Park, Dayea; Wei, Yulei; Schmitz, Daniel A.; Ding, Yi; Sakurai, Masahiro; Ballard, Emily; Li, Leijie; Liu, Yan; Kumar, Ashwani; Xing, Chao; Qin, Shenlu; Kim, Sangin; Foglizzo, Martina; Zhao, Jianchao; Kim, Hyung-Goo; Ekmekci, Cumhur; Karimiani, Ehsan Ghayoor; Imannezhad, Shima; Eghbal, Fatemeh; Badv, Reza Shervin; Schwaibold, Eva Maria Christina; Dehghani, Mohammadreza; Mehrjardi, Mohammad Yahya Vahidi; Metanat, Zahra; Eslamiyeh, Hosein; Khouj, Ebtissal; Alhajj, Saleh Mohammed Nasser; Chedrawi, Aziza; Ramzan, Khushnooda; Hashmi, Jamil A.; Alluqmani, Majed M.; Basit, Sulman; Veltra, Danai; Marinakis, Nikolaos M.; Niotakis, Georgios; Vorgia, Pelagia; Sofocleous, Christalena; Lee, Hane; Jeong, Won Chan; Umair, Muhammad; Bilal, Muhammad; Alves, César Augusto Pinheiro Ferreira; Sieber, Matthew; Kruer, Michael; Houlden, Henry; Alkuraya, Fowzan S.; Zeqiraj, Elton; Greenberg, Roger A.; Cenik, Can; Yu, Leqian; Maroofian, Reza; Wu, Jun; Buszczak, Michael
Nature Cell Biology. 27(8):1240-1255
Academic Journal
Chung, Wendy K; Naz, Sadaf; Maqbool, Shazia; Chandler, Kate; Kershaw, Christopher; Wright, Thomas; Banka, Siddharth; Gleeson, Joseph G; Taylor, Jenny C; Efthymiou, Stephanie; Baig, Shahid Mahmood; Severino, Mariasavina; Jepson, James E C; Houlden, Henry; Bello, Abiodun H; Iyagba, Alagoma; Macaya Ruiz, Alfons; Nabil, Amira; Gevorgyan, Ani; Muhammad, Anees; Pérez-Dueñas, Belen; Monteagudo Sanchez, Benigno; Sukhudyan, Biayna; Marinova Karashova, Blagovesta; Sanlidag, Burcin; Scuderi, Carmela; Shashkin, Chingiz; Spanaki, Cleanthe; Dardiotis, Efthymios; Torti, Erin; Nwazor, Ernest; Afzal, Erum; Borgione, Eugenia; Shaikh, Farooq; Al-Mutairi, Fuad; Di Rosa, Gabriella; Heimer, Gali; Xiromerisiou, Georgia; Melikishvili, Gia; Morello, Giovanna; Kathom, Hadil; Per, Hüseyin; Tomoum, Hoda; Javed, Iram; Al-Khawaja, Issam; Koneyev, Kairgali; Salayev, Kamran; Moodley, Kaminie; Senkevich, Konstantin; Arning, Larissa; Fidani, Liana; Taiwo, Lolade; Beridze, Maia; Ganieva, Manizha; Isayan, Mariam; Kekenadze, Mariam; García-Silva, Mayte; Vikelis, Michail; Tabatadze, Nazi; Zharkynbekova, Nazira; Noureen Rana, Nuzhat; Oguntunde, Olapeju; Ekenze, Oluchi; Ojo, Oluwadamilola O; Atawneh, Osama; Nicolaides, Paola; Kazadi, Prince; Kaiyrzhanov, Rauan; Maroofian, Reza; Boles, Richard; Ibadova, Rima; Savasta, Salvatore; Khachatryan, Samson; Portaro, Simona; Guliyeva, Sughra; Stojkovic, Tanya; Williams, Uduak; Guliyeva, Ulviyya; Salpietro, Vincenzo; Chelban, Viorica; Nachbauer, Wolfgang; Aughey, Gabriel N; Mine, Jun; Wahab, Kolawole; Zollo, Massimo; Cali, Elisa; Zaki, Maha S; Pagnamenta, Alistair T; Ali, Zafar; Abdulllah, Uzma; Rahman, Fatima; Menzies, Lara; Pineda-Marfa, Mercedes; Aguennouz, Mhammed; Ferrari, Michel D; Shafique, Anum; Suri, Mohnish; Roze, Emmanuel; Aguennouz, Mohammed; Ghizlane, Zouiri; Saadi, Saadia Maryam; Fatima, Ambrin; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Morel, Godelieve; Robin, Stephanie; Mcfarland, Robert; Altunoglu, Umut; Kraus, Verena; Shoukier, Moneef; Abd El Hamed, Mohamed A; Murphy, David; Flemming, Kristina; Obiabo, Yahaya; Tavadyan, Zaruhi; Zholdasova, Zhibek; Sardar, Zomer; Al-Ajmi, Abdullah; Verrotti, Alberto; Van Den Maagdenberg, Arn M J M; Garavaglia, Barbara; Cormand, Bru; Timmann, Dagmar; Avdjieva, Daniela; Zamba Papanicolaou, Eleni; Alkuraya, Fowzan S; Silvestri, Gabriella; Koutsis, George; Marseglia, Giangluigi; Önemli Mungan, Halise Neslihan; Goraya, Jatinder S; Yttervik, Hilde; Rhouda, Hajar; Lesca, Gaetan; Chatron, Nicolas; Rossi, Massimiliano; Murtaza, Bibi Nazia; Ur Rehman, Mujaddad; Lord, Jenny; Giacopuzzi, Edoardo; Hayat, Azam; Siraj, Muhammad; Badv, Reza Shervin; Seo, Go Hun; Beetz, Christian; Kayserili, Hülya; Krioulie, Yamna; El Khorassani, Mohamed; Komolafe, Morenikeji; Okubadejo, Njideka U; Striano, Pasquale; Veggiotti, Pierangelo; Tincheva, Radka; Kirmani, Salman; Mangano, Salvatore; Abubakar, Sanni; Zhumakhanov, Dauren; Dauvilliers, Yves A; Sultan, Tipu; Boesch, Sylvia; Groppa, Stanislav; Ahmed Hamed, Sherifa; Lim, Shen-Yang; Ibrahim, Shahnaz; Banu, Selina; Papacostas, Savvas
Brain
Aughey, G N, Cali, E, Maroofian, R, Zaki, MS , Pagnamenta, A T, Ali, Z, Abdulllah, U, Rahman, F, Menzies, L, Shafique, A, Suri, M, Roze, E, Aguennouz, M, Ghizlane, Z, Saadi, S M, Fatima, A, Cheema, H A, Anjum, M N, Morel, G, Robin, S , McFarland, R, Altunoglu, U, Kraus, V, Shoukier, M, Murphy, D, Flemming, K, Yttervik, H, Rhouda, H, Lesca, G, Chatron, N, Rossi, M, Murtaza, B N, Ur Rehman, M, Lord, J, Giacopuzzi, E, Hayat, A, Siraj, M, Shervin Badv, R, Seo, G H, Beetz, C, Kayserili, H, Krioulie, Y, Chung, W K, Naz, S , Maqbool, S , Chandler, K E, Kershaw, C J, Wright, T, Banka, S , Gleeson, J G, Taylor, J C, Efthymiou, S , Baig, S M, Severino, M, Jepson, J E C & Houlden, H 2025, ' Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder ', Brain : a journal of neurology, vol. 148, no. 4, pp. 1194-1211 . https://doi.org/10.1093/brain/awae363
Aughey, G N, Cali, E, Maroofian, R, Zaki, MS , Pagnamenta, A T, Ali, Z, Abdulllah, U, Rahman, F, Menzies, L, Shafique, A, Suri, M, Roze, E, Aguennouz, M, Ghizlane, Z, Saadi, S M, Fatima, A, Cheema, H A, Anjum, M N, Morel, G, Robin, S , McFarland, R, Altunoglu, U, Kraus, V, Shoukier, M, Murphy, D, Flemming, K, Yttervik, H, Rhouda, H, Lesca, G, Chatron, N, Rossi, M, Murtaza, B N, Ur Rehman, M, Lord, J, Giacopuzzi, E, Hayat, A, Siraj, M, Shervin Badv, R, Seo, G H, Beetz, C, Kayserili, H, Krioulie, Y, Chung, W K, Naz, S , Maqbool, S , Chandler, K E, Kershaw, C J, Wright, T, Banka, S , Gleeson, J G, Taylor, J C, Efthymiou, S , Baig, S M, Severino, M, Jepson, J E C & Houlden, H 2025, 'Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder', Brain : a journal of neurology, vol. 148, no. 4, pp. 1194-1211. https://doi.org/10.1093/brain/awae363
Aughey, G N, Cali, E, Maroofian, R, Zaki, M
Aughey, G N, Cali, E, Maroofian, R, Zaki, M
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
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