학술논문
'학술논문'
에서 검색결과 965건 | 목록
1~20
Academic Journal
Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J.; Barakat, Tahsin Stefan; Benoit, Valérie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutiérrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gómez-Puertas, Paulino; Hammer, Trine Bjørg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Iñigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A.; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tümer, Zeynep; Tartaglia, Marco
European Journal of Human Genetics. 33(7):896-903
Academic Journal
Zhang, Kejia; Manning, Aidan; Lentini, Jenna; Howard, Jonathan; Dalwigk, Felix; Maroofian, Reza; Efthymiou, Stephanie; Chan, Patricia; Eliseev, Sergei; Yang, Zi; Chang, Hayley; Karimiani, Ehsan; Bakhshoodeh, Behnoosh; Houlden, Henry; Kaiser, Stefanie; Lowe, Todd; Fu, Dragony
Cell Reports. 44(1)
Academic Journal
Rahman, Fatima; Marsili, Luisa; Pasquetti, Domizia; Rad, Aboulfazl; Nadeem Anjum, Muhammad; Oprea, Gabriela; Cheema, Huma Arshad; Vona, Barbara; Augusto Alves, Cesar; Houlden, Henry; Maqbool, Shazia; Efthymiou, Stephanie; Smol, Thomas; Maroofian, Reza
European Journal of Human Genetics. 33(4):552-555
Academic Journal
Rawlins, Lettie E. ; Maroofian, Reza ; Cannon, Stuart J. ; Daana, Muhannad ; Zamani, Mina ; Ghani, Shamsul ; Leslie, Joseph S. ; Ubeyratna, Nishanka ; Khan, Nasar ; Khan, Hamid ; Scardamaglia, Annarita ; Cloarec, Robin ; Khan, Shujaat Ali ; Umair, Muhammad ; Sadeghian, Saeid ; Galehdari, Hamid ; Al-Maawali, Almundher ; Al-Kindi, Adila ; Azizimalamiri, Reza ; Shariati, Gholamreza ; Ahmad, Faraz ; Al-Futaisi, Amna ; Rodriguez Cruz, Pedro M. ; Salazar-Villacorta, Ainara ; Ndiaye, Moustapha ; Diop, Amadou G. ; Sedaghat, Alireza ; Saberi, Alihossein ; Hamid, Mohammad ; Zaki, Maha S. ; Vona, Barbara ; Owrang, Daniel ; Alhashem, Abdullah M. ; Obeid, Makram ; Khan, Amjad ; Beydoun, Ahmad ; Najjar, Marwan ; Tajsharghi, Homa ; Zifarelli, Giovanni ; Bauer, Peter ; Hakami, Wejdan S. ; Al Hashem, Amal M. ; Boustany, Rose-Mary N. ; Burglen, Lydie ; Alavi, Shahryar ; Gunning, Adam C. ; Owens, Martina ; Karimiani, Ehsan G. ; Gleeson, Joseph G. ; Milh, Mathieu ; Salah, Somaya ; Khan, Jahangir ; Haucke, Volker ; Wright, Caroline F. ; McGavin, Lucy ; Elpeleg, Orly ; Shabbir, Muhammad I. ; Houlden, Henry ; Ebner, Michael ; Baple, Emma L. ; Crosby, Andrew H.
In Genetics in Medicine February 2025 27(2)
Efthymiou, Stephanie; Leo, Cailyn P.; Deng, Chenghong; Lin, Sheng-Jia; Maroofian, Reza; Lin, Renee; Karagoz, Irem; Zhang, Kejia; Kaiyrzhanov, Rauan; Scardamaglia, Annarita; Owrang, Daniel; Turchetti, Valentina; Jahnke, Friederike; Huang, Kevin; Petree, Cassidy; V. Derrick, Anna; Rees, Mark I.; Alvi, Javeria Raza; Sultan, Tipu; Li, Chumei; Jacquemont, Marie-Line; Tran-Mau-Them, Frederic; Valenzuela-Palafoll, Maria; Sidlow, Rich; Yoon, Grace; Morrow, Michelle M.; Carere, Deanna Alexis; O'Connor, Mary; Fleischer, Julie; Gerkes, Erica H.; Phornphutkul, Chanika; Isidor, Bertrand; Rivier-Ringenbach, Clotilde; Philippe, Christophe; Kurul, Semra Hiz; Soydemir, Didem; Kara, Bulent; Sunnetci-Akkoyunlu, Deniz; Bothe, Viktoria; Platzer, Konrad; Wieczorek, Dagmar; Koch-Hogrebe, Margarete; Rahner, Nils; Thuresson, Ann-Charlotte; Matsson, Hans, PhD, 1973; Frykholm, Carina; Bozdogan, Sevcan Tug; Bisgin, Atil; Chatron, Nicolas; Lesca, Gaetan; Cabet, Sara; Tumer, Zeynep; Hjortshoj, Tina D.; Ronde, Gitte; Marquardt, Thorsten; Reunert, Janine; Afzal, Erum; Zamani, Mina; Azizimalamiri, Reza; Galehdari, Hamid; Nourbakhsh, Pardis; Chamanrou, Niloofar; Chung, Seo-Kyung; Suri, Mohnish; Benke, Paul J.; Zaki, Maha S.; Gleeson, Joseph G.; Calame, Daniel G.; Pehlivan, Davut; Yilmaz, Halil I.; Gezdirici, Alper; Rad, Aboulfazl; Abumansour, Iman Sabri; Oprea, Gabriela; Bereketoglu, Muhammed Burak; Banneau, Guillaume; Julia, Sophie; Zeighami, Jawaher; Ashoori, Saeed; Shariati, Gholamreza; Sedaghat, Alireza; Sabri, Alihossein; Hamid, Mohammad; Parvas, Sahere; Tajudin, Tajul Arifin; Abdullah, Uzma; Baig, Shahid Mahmood; Chung, Wendy K.; Glazunova, Olga O.; Sabine, Sigaudy; Cheema, Huma Arshad; Zifarelli, Giovanni; Bauer, Peter; Sidpra, Jai; Mankad, Kshitij; Vona, Barbara; Fry, Andrew E.; Varshney, Gaurav K.; Houlden, Henry; Fu, Dragony
American Journal of Human Genetics. 112(5)
Academic Journal
Karimi, Karim; Weis, Denisa; Aukrust, Ingvild; Hsieh, Tzung-Chien; Horackova, Marie; Paulsen, Julie; Mendoza Londono, Roberto; Dupuis, Lucie; Dickson, Megan; Lesman, Hellen; Lau, Tracy; Murphy, David; Hama Salih, Khalid; Al-Musawi, Bassam M. S.; Al-Obaidi, Ruqayah G. Y.; Rydzanicz, Malgorzata; Biela, Mateus; Santos, Mafalda Saraiva; Aldeeri, Abdulrahman; Gazda, Hanna T.; Pais, Lynn; Shril, Shirlee; Døllner, Henrik; Bartakke, Sandip; Laccone, Franco; Soltysova, Andrea; Kitzler, Thomas; Soliman, Neveen A.; Relator, Raissa; Levy, Michael A.; Kerkhof, Jennifer; Rzasa, Jessica; Houlden, Henry; Pilshofer, Gabriela V.; Jobst-Schwan, Tilman; Hildebrandt, Friedhelm; Sousa, Sergio B.; Maroofian, Reza; Yu, Timothy W.; Krawitz, Peter; Sadikovic, Bekim; Douzgou Houge, Sofia
European Journal of Human Genetics. 32(12):1574-1582
Kaiyrzhanov, Rauan; Thompson, Kyle; Efthymiou, Stephanie; Mukushev, Askhat; Zharylkassyn, Akbota; Prasad, Chitra; Ghayoor Karimiani, Ehsan; Alvi, Javeria Raza; Niyazov, Dmitriy; Alahmad, Ahmad; Babaei, Meisam; Tajsharghi, Homa; Albash, Buthaina; Alaqeel, Ahmad; Charif, Majida; Hashemi, Narges; Heidari, Morteza; Kalantar, Seyed Mehdi; Lenaers, Guy; Mehrjardi, Mohammad Yahya Vahidi; Srinivasan, Varunvenkat M.; Gowda, Vykuntaraju K.; Mirabutalebi, Seyed Hamidreza; Carere, Deanna Alexis; Movahedinia, Mojtaba; Murphy, David; McFarland, Robert; Abdel-Hamid, Mohamed S.; Elhossini, Rasha M.; Alavi, Shahryar; Napier, Melanie; Belanger-Quintana, Amaya; Prasad, Asuri N.; Jakobczyk, Jessica; Roubertie, Agathe; Rupar, Tony; Sultan, Tipu; Toosi, Mehran Beiraghi; Sazanov, Leonid; Severino, Mariasavina; Houlden, Henry; Taylor, Robert W.; Maroofian, Reza
Brain Communications. 7(1)
Academic Journal
Svetlana A. Semenova; Deepthi Nammi; Grace B. Garrett; Gennady Margolin; Jennifer L. Sinclair; Reza Maroofian; Keith W. Caldecott; Harold A. Burgess
Scientific Reports, Vol 15, Iss 1, Pp 1-8 (2025)
Academic Journal
Beth L. Woodward; Sudipta Lahiri; Anoop S. Chauhan; Marcos Rios Garcia; Lucy E. Goodley; Thomas L. Clarke; Mohinder Pal; Angelo Agathanggelou; Satpal S. Jhujh; Anil N. Ganesh; Fay M. Hollins; Valentina Galassi Deforie; Reza Maroofian; Stephanie Efthymiou; Andrea Meinhardt; Christopher G. Mathew; Michael A. Simpson; Heather C. Mefford; Eissa A. Faqeih; Sergio D. Rosenzweig; Stefano Volpi; Gigliola Di Matteo; Caterina Cancrini; Annarita Scardamaglia; Fiona Shackley; E. Graham Davies; Shahnaz Ibrahim; Peter D. Arkwright; Maha S. Zaki; Tatjana Stankovic; A. Malcolm R. Taylor; Antonina J. Mazur; Nataliya Di Donato; Henry Houlden; Eli Rothenberg; Grant S. Stewart
Nature Communications, Vol 16, Iss 1, Pp 1-20 (2025)
Academic Journal
Lieselot Vincke; Kristof Van Schil; Hamid Ahmadieh; Afrooz Moghaddasi; Hamideh Sabbaghi; Narsis Daftarian; Tahmineh Motevasseli; Leila Javanparast Sheykhani; Mohammadreza Dehghani; Mohammad Yahya Vahidi Mehrjardi; Julie De Zaeytijd; Marieke De Bruyne; Quinten Mahieu; Ebrahim Al-Hajj; Marta Del Pozo-Valero; Toon Rosseel; Mattias Van Heetvelde; Reza Maroofian; Fatemeh Suri; Miriam Bauwens; Elfride De Baere
npj Genomic Medicine, Vol 10, Iss 1, Pp 1-9 (2025)
Academic Journal
Alabdi, Lama; Altuwaijri, Norah; Zhu, Jun-yi; Efthymiou, Stephanie; Lee, Hangnoh; Duan, Jianli; Salem, Israa; Yu, Piao; Abdullah, Nor Linda; Alzahrani, Fatema; Xu, Qing; Felemban, Mashael M.; Alfaifi, Abdullah; Rahman, Fatima; Christoforou, Marilena; Maqbool, Shazia; Martinez-Agosto, Julian A.; Alsaif, Hessa S.; Hashem, Mais; Helaby, Rana; Alsulaiman, Ahood; Maroofian, Reza; Houlden, Henry; Arold, Stefan T.; Ibrahim, Leena A.; Han, Zhe; Alkuraya, Fowzan S.; Groppa, Stanislav; Marinova Karashova, Blagovesta; Nachbauer, Wolfgang; Boesch, Sylvia; Arning, Larissa; Timmann, Dagmar; Cormand, Bru; Pérez-Dueñas, Belen; Di Rosa, Gabriella; Goraya, Jatinder S.; Sultan, Tipu; Mine, Jun; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Pineda-Marfa, Mercedes; Veggiotti, Pierangelo; Ferrari, Michel D.; Verrotti, Alberto; Marseglia, Giangluigi; Savasta, Salvatore; García-Silva, Mayte; Macaya Ruiz, Alfons; Garavaglia, Barbara; Borgione, Eugenia; Portaro, Simona; Monteagudo Sanchez, Benigno; Boles, Richard; Papacostas, Savvas; Vikelis, Michail; Zamba Papanicolaou, Eleni; Dardiotis, Efthymios; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat Noureen; Atawneh, Osama; Koutsis, George; Breza, Marianthi; Mangano, Salvatore; Scuderi, Carmela; Morello, Giovanna; Stojkovic, Tanya; Zollo, Massimo; Heimer, Gali; Dauvilliers, Yves A.; Striano, Pasquale; Al-Khawaja, Issam; Al-Mutairi, Fuad; Hamed, Sherifa Ahmed; Abd El Hamed, Mohamed A.; Khachatryan, Samson; Guliyeva, Ulviyya; Guliyeva, Sughra; Salayev, Kamran; Xiromerisiou, Georgia; Fidani, Liana; Spanaki, Cleanthe; Aguennouz, Mhammed; Silvestri, Gabriella; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Al-Ajmi, Abdullah; Lim, Shen-Yang; Shaikh, Farooq; El Khorassani, Mohamed; van den Maagdenberg, Arn M.J.M.; Okubadejo, Njideka U.; Ojo, Oluwadamilola O.; Wahab, Kolawole; Bello, Abiodun H.; Abubakar, Sanni; Obiabo, Yahaya; Nwazor, Ernest; Ekenze, Oluchi; Williams, Uduak; Iyagba, Alagoma; Taiwo, Lolade; Komolafe, Morenikeji; Oguntunde, Olapeju; Senkevich, Konstantin; Manizha, Ganieva; Isrofilov, Maksud; Torti, Erin; Zaki, Maha; Tomoum, Hoda; Nabil, Amira; Nicolaides, Paola; Haider, Shahzad; Hasbini, Dana; Alam, Chadi el; Huneineh, Mona; Zafar, Faisal; Afzal, Erum; Muhammad, Ilyas; Nalini, Atchayaram; Bakhtaze, Sofia; Baig, Shahid; Issa, Ben; Triki, Chahnez; Bassam, Mussa; Craiou, Dana; Tazir, Meriem; Patcha, Lamia Ali; Waill Saadi, Nebal; Benrhouma, Hanene; Saraf, Payam; Hama Salih, Khalid; Awatif
eBioMedicine. 116
Academic Journal
Maroofian, Reza ; Zamani, Mina ; Kaiyrzhanov, Rauan ; Liebmann, Lutz ; Karimiani, Ehsan Ghayoor ; Vona, Barbara ; Huebner, Antje K. ; Calame, Daniel G. ; Misra, Vinod K. ; Sadeghian, Saeid ; Azizimalamiri, Reza ; Mohammadi, Mohammad Hasan ; Zeighami, Jawaher ; Heydaran, Sogand ; Toosi, Mehran Beiraghi ; Akhondian, Javad ; Babaei, Meisam ; Hashemi, Narges ; Schnur, Rhonda E. ; Suri, Mohnish ; Setzke, Jonas ; Wagner, Matias ; Brunet, Theresa ; Grochowski, Christopher M. ; Emrick, Lisa ; Chung, Wendy K. ; Hellmich, Ute A. ; Schmidts, Miriam ; Lupski, James R. ; Galehdari, Hamid ; Severino, Mariasavina ; Houlden, Henry ; Hübner, Christian A.
In Genetics in Medicine March 2024 26(3)
Academic Journal
Chelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren; Seabra, Luis; Siggervåg, Anette; Devic, Perrine; Shamseldin, Hanan; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair; Pennavaria, Ajia; Krogstad, Liv; Bekkelund, Åse; Caiella, Alessia; Glomnes, Nina; Brønstad, Kirsten; Tury, Sandrine; Moreno De Luca, Andrés; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-François; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; İpek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra; Lochmuller, Hanns; Daas, Sahar; Fakhro, Khalid; Gómez-Pascual, Alicia; Botía, Juan; Wood, Nicholas; Horvath, Rita; Ernst, Andreas; Rothman, James; McEntagart, Meriel; Crow, Yanick; Alkuraya, Fowzan; Nicolas, Gaël; Arnesen, Thomas; Houlden, Henry
Nature Communications. 15(1)
Academic Journal
Isle Bastille; Lucy Lee; Cynthia Moncada-Reid; Wei-Ming Yu; Austen Sitko; Andrea Yung; Mina Zamani; Nele Christophersen; Reza Maroofian; Hamid Galehdari; Norbert Babai; Barbara Vona; Tobias Moser; Lisa Goodrich
Cell Reports, Vol 44, Iss 6, Pp 115796- (2025)
Academic Journal
Avinash V. Dharmadhikari; Maria Alba Abad; Sheraz Khan; Reza Maroofian; Tristan T. Sands; Farid Ullah; Itaru Samejima; Yanwen Shen; Martin A. Wear; Kiara E. Moore; Elena Kondakova; Natalia Mitina; Theres Schaub; Grace K. Lee; Christine H. Umandap; Sara M. Berger; Alejandro D. Iglesias; Bernt Popp; Rami Abou Jamra; Heinz Gabriel; Stefan Rentas; Alyssa L. Rippert; Christopher Gray; Kosuke Izumi; Laura K. Conlin; Daniel C. Koboldt; Theresa Mihalic Mosher; Scott E. Hickey; Dara V. F. Albert; Haley Norwood; Amy Feldman Lewanda; Hongzheng Dai; Pengfei Liu; Tadahiro Mitani; Dana Marafi; Hatice Koçak Eker; Davut Pehlivan; Jennifer E. Posey; Natalie C. Lippa; Natalie Vena; Erin L. Heinzen; David B. Goldstein; Cyril Mignot; Jean-Madeleine de Sainte Agathe; Nouriya Abbas Al-Sannaa; Mina Zamani; Saeid Sadeghian; Reza Azizimalamiri; Tahere Seifia; Maha S. Zaki; Ghada M. H. Abdel-Salam; Mohamed S. Abdel-Hamid; Lama Alabdi; Fowzan Sami Alkuraya; Heba Dawoud; Aya Lofty; Peter Bauer; Giovanni Zifarelli; Erum Afzal; Faisal Zafar; Stephanie Efthymiou; Daniel Gossett; Meghan C. Towne; Raey Yeneabat; Belen Perez-Duenas; Ana Cazurro-Gutierrez; Edgard Verdura; Veronica Cantarin-Extremera; Ana do Vale Marques; Aleksandra Helwak; David Tollervey; Sandeep N. Wontakal; Vimla S. Aggarwal; Jill A. Rosenfeld; Victor Tarabykin; Shinya Ohta; James R. Lupski; Henry Houlden; William C. Earnshaw; Erica E. Davis; A. Arockia Jeyaprakash; Jun Liao
Nature Communications, Vol 16, Iss 1, Pp 1-24 (2025)
Academic Journal
Kaiyrzhanov, Rauan; Zharkinbekova, Nazira; Guliyeva, Ulviyya; Ganieva, Manizha; Tavadyan, Zaruhi; Gachechiladze, Tamar; Salayev, Kamran; Guliyeva, Sughra; Isayan, Mariam; Kekenadze, Mariam; Sukhudyan, Biayna; Gevorgyan, Ani; Hakobyan, Artsruni; Ibadova, Rima; Tabatadze, Nazi; Kurua, Ekaterina; Shatirishvili, Teona; Yerkhojayeva, Nigara; Koneev, Kairgali; Zhumakhanov, Dauren; Mukushev, Askhat; Jaxybayeva, Altynshash; Nauryzbayeva, Alissa; Isrofilov, Maksudjon; Badalova, Saadat; Zeyniyeva, Naila; Hajiyeva, Ilaha; Alakbarov, Leyla; Zeynalova, Aynur; Chelban, Viorica; Vandrovcova, Jana; Turchetti, Valentina; Murphy, David; Efthymiou, Stephanie; Alavi, Shahryar; Mohammad, Rahema; Tkemaladze, Tinatin; Shashkin, Chingiz; Tatishvili, Nana Nino; Beridze, Maia; Khachatryan, Samson G.; Melikishvili, Gia; Hardy, John; Maroofian, Reza; Houlden, Henry
Nature Genetics. 56(12):2582-2584
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
In The Lancet Neurology August 2025 24(8):667-680
Academic Journal
Cali, Elisa ; Quirin, Tania ; Rocca, Clarissa ; Efthymiou, Stephanie ; Riva, Antonella ; Marafi, Dana ; Zaki, Maha S. ; Suri, Mohnish ; Dominguez, Roberto ; Elbendary, Hasnaa M. ; Alavi, Shahryar ; Abdel-Hamid, Mohamed S. ; Morsy, Heba ; Mau-Them, Frederic Tran ; Nizon, Mathilde ; Tesner, Pavel ; Ryba, Lukáš ; Zafar, Faisal ; Rana, Nuzhat ; Saadi, Nebal W. ; Firoozfar, Zahra ; Gencpinar, Pinar ; Unay, Bulent ; Ustun, Canan ; Bruel, Ange-Line ; Coubes, Christine ; Stefanich, Jennifer ; Sezer, Ozlem ; Agolini, Emanuele ; Novelli, Antonio ; Vasco, Gessica ; Lettori, Donatella ; Milh, Mathieu ; Villard, Laurent ; Zeidler, Shimriet ; Opperman, Henry ; Strehlow, Vincent ; Issa, Mahmoud Y. ; El Khassab, Hebatallah ; Chand, Prem ; Ibrahim, Shahnaz ; Rashidi-Nezhad, Ali ; Miryounesi, Mohammad ; Larki, Pegah ; Morrison, Jennifer ; Cristian, Ingrid ; Thiffault, Isabelle ; Bertsch, Nicole L. ; Noh, Grace J. ; Pappas, John ; Moran, Ellen ; Marinakis, Nikolaos M. ; Traeger-Synodinos, Joanne ; Hosseini, Susan ; Abbaszadegan, Mohammad Reza ; Caumes, Roseline ; Vissers, Lisenka E.L.M. ; Neshatdoust, Maedeh ; Montazer Zohour, Mostafa ; El Fahime, Elmostafa ; Canavati, Christina ; Kamal, Lara ; Kanaan, Moien ; Askander, Omar ; Voinova, Victoria ; Levchenko, Olga ; Haider, Shahzhad ; Halbach, Sara S. ; Elias Maia, Rayana ; Mansoor, Salehi ; Jain, Vivek ; Tawde, Sanjukta ; Challa, Viveka Santhosh R. ; Gowda, Vykuntaraju K. ; Srinivasan, Varunvenkat M. ; Victor, Lucas Alves ; Pinero-Banos, Benito ; Hague, Jennifer ; ElAwady, Heba Ahmed ; Maria de Miranda Henriques-Souza, Adelia ; Cheema, Huma Arshad ; Anjum, Muhammad Nadeem ; Idkaidak, Sara ; Alqarajeh, Firas ; Atawneh, Osama ; Mor-Shaked, Hagar ; Harel, Tamar ; Zifarelli, Giovanni ; Bauer, Peter ; Kok, Fernando ; Kitajima, Joao Paulo ; Monteiro, Fabiola ; Josahkian, Juliana ; Lesca, Gaetan ; Chatron, Nicolas ; Ville, Dorothe ; Murphy, David ; Neul, Jeffrey L. ; Mullegama, Sureni V. ; Begtrup, Amber ; Herman, Isabella ; Mitani, Tadahiro ; Posey, Jennifer E. ; Tay, Chee Geap ; Javed, Iram ; Carr, Lucinda ; Kanani, Farah ; Beecroft, Fiona ; Hane, Lee ; Abdelkreem, Elsayed ; Macek, Milan ; Bispo, Luciana ; Elmaksoud, Marwa Abd ; Hashemi-Gorji, Farzad ; Pehlivan, Davut ; Amor, David J. ; Jamra, Rami Abou ; Chung, Wendy K. ; Ghayoor Karimiani, Eshan ; Campeau, Philippe M. ; Alkuraya, Fowzan S. ; Pagnamenta, Alistair T. ; Gleeson, Joseph G. ; Lupski, James R. ; Striano, Pasquale ; Moreno-De-Luca, Andres ; Lafontaine, Denis L.J. ; Houlden, Henry ; Maroofian, Reza
In Genetics in Medicine April 2025 27(4)
Academic Journal
Smith, Thomas; Rea, Alessandro; Thomas, Huw; Thompson, Kyle; Oláhová, Monika; Maroofian, Reza; Zamani, Mina; He, Langping; Sadeghian, Saeid; Galehdari, Hamid; Lotan, Nava; Gilboa, Tal; McCorvie, Thomas; Yue, Wyatt; Houlden, Henry; Taylor, Robert; Newman, William; OKeefe, Raymond; Herman, Kristin
European Journal of Human Genetics. 31(10)
Academic Journal
Sharaf-Eldin, Wessam E.; Rafat, Karima; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Eissa, Noura R.; Hawaary, Bahaa; Gaboon, Nagwa E. A.; Maroofian, Reza; Gleeson, Joseph G.; Essawi, Mona L.; Zaki, Maha S.
Journal of Molecular Neuroscience. 74(4)
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