학술논문
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'학술논문'
에서 검색결과 1,165건 | 목록
1~20
Academic Journal
Hormos Salimi Dafsari; Celine Deneubourg; Kritarth Singh; Reza Maroofian; Zita Suprenant; Ay Lin Kho; Neil J Ingham; Karen P Steel; Preethi Sheshadri; Franciska Baur; Lea Hentrich; Birgit Gerisch; Mina Zamani; Cesar Alves; Ata Siddiqui; Haidar S Dafsari; Mehri Salari; Anthony E. Lang; Michael Harris; Alice Abdelaleem; Saeid Sadeghian; Reza Azizimalamiri; Hamid Galehdari; Gholamreza Shariati; Alireza Sedaghat; Jawaher Zeighami; Daniel Calame; Dana Marafi; Ruizhi Duan; Adrian Boehnke; Gary D. Clark; Jill A. Rosenfeld; Carrie A. Mohila; Dora Steel; Saurabh Chopra; Suvasini Sharma; Nicolai Kohlschmidt; Steffi Patzer; Afshin Saffari; Darius Ebrahimi‐Fakhari; Büşra Eser Çavdartepe; Irene J Chang; Erika Beckman; Renate Peters; Andrew Paul Fennell; Bernice Lo; Luisa Averdunk; Felix Distelmaier; Martina Baethmann; Frances Elmslie; Kairit Joost; Sheela Nampoothiri; Dhanya Yesodharan; Hanna Mandel; Amy Kimball; Antonie D. Kline; Cyril Mignot; Boris Keren; Vincent Laugel; Katrin Õunap; Kalpana Devadathan; Frederique M.C. van Berkestijn; Arpana Silwal; Saskia Koene; Sumit Verma; Mohammed Yousuf Karim; Chahynez Boubidi; Majid Aziz; Gehad ElGhazali; Lauren Mattas; Mohammad Miryounesi; Farzad Hashemi‐Gorji; Shahryar Alavi; Nayereh Nouri; Mehrdad Noruzinia; Saeideh Kavousi; Arveen Kamath; Sandeep Jayawant; Russell Saneto; Nourelhoda A. Haridy; Pinar Ozkan Kart; Ali Cansu; Madeleine Joubert; Claire Beneteau; Kyra E. Stuurman; Martina Wilke; Tahsin Stefan Barakat; Homa Tajsharghi; Annarita Scardamaglia; Sadeq Vallian; Semra Hız; Ali Shoeibi; Reza Boostani; Narges Hashemi; Meisam Babaei; Norah Saleh Alsaleh; Julie Porter; Tania Attié‐Bitach; Pauline Marzin; Dorota Wicher; Jessica I. Gold; Elisabeth Schuler; Amna Kashgari; Rakan F. Alanazi; Wafaa Eyaid; Marc Engelen; Mirjam Langeveld; Burkhard Stüve; Yun Li; Gökhan Yigit; Bernd Wollnik; Mariana H.G Monje; Dimitri Krainc; Niccolò E. Mencacci; Somayeh Bakhtiari; Michael Kruer; Emanuela Argilli; Elliott Sherr; Yalda Jamshidi; Ehsan Ghayoor Karimiani; Yiu Wing Sunny Cheung; Ivan Karin; Giovanni Zifarelli; Peter Bauer; Wendy K Chung; James R. Lupski; Manju A. Kurian; Jörg Dötsch; Jürgen‐Christoph von Kleist‐Retzow; Thomas Klopstock; Matias Wagner; Calvin Yip; Andreas Roos; Rita Carsetti; Carlo Dionisi‐Vici; Mathias Gautel; Michael R Duchen; Adam Antebi; Henry Houlden; Manolis Fanto; Heinz Jungbluth
Dafsari, H S, Deneubourg, C, Singh, K, Maroofian , R, Suprenant, Z, Kho, A L, Ingham, N J, Steel, K P, Sheshadri, P, Baur, F, Hentrich, L, Gerisch, B, Zamani, M, Alves, C, Siddiqui, A, Dafsari, H S, Salari, M, Lang, A E, Harris, M, Abdelaleem, A, Sadeghian, S, Azizimalamiri, R, Galehdari, H, Shariati, G, Sedaghat, A, Zeighami, J, Calame, D, Marafi, D, Duan, R, Boehnke, A, Clark, G D, Rosenfeld, J A, Mohila, C A, Steel, D, Chopra, S, Sharma, S, Kohlschmidt, N, Patzer, S, Saffari, A, Ebrahimi-Fakhari, D, Çavdartepe, B E, Chang, I J, Beckman, E, Peters, R, Fennell, A P, Lo, B, Averdunk, L, Distelmaier, F, Baethmann, M, Elmslie, F, Joost, K, Nampoothiri, S, Yesodharan, D, Mandel, H, Kimball, A, Kline, A D, Mignot, C, Keren, B, Laugel, V, Õunap, K, Devadathan, K, van Berkestijn, F M C, Silwal, A, Koene, S, Verma, S, Karim, M Y, Boubidi, C, Aziz, M, ElGhazali, G, Mattas, L, Miryounesi, M, Hashemi-Gorji, F, Alavi, S, Nouri, N, Noruzinia, M, Kavousi, S, Kamath, A, Jayawant, S, Saneto, R, Haridy, N A, Kart, P O, Cansu, A, Joubert, M, Beneteau, C, Stuurman, K E, Wilke, M, Barakat, T S, Tajsharghi, H, Scardamaglia, A, Vallian, S, Hız, S, Shoeibi, A, Boostani, R, Hashemi, N, Babaei, M, Alsaleh, N S, Porter, J, Attié-Bitach, T, Marzin, P, Wicher, D, Gold, J I, Schuler, E, Kashgari, A, Alanazi, R F, Eyaid, W, Engelen, M, Langeveld, M, Stüve, B, Li, Y, Yigit, G, Wollnik, B, Monje, M H G, Krainc, D, Mencacci, N E, Bakhtiari, S, Kruer, M, Argilli, E, Sherr, E, Jamshidi, Y, Karimiani, E G, Cheung, Y W S, Karin, I, Zifarelli, G, Bauer, P, Chung, W K, Lupski, J R, Kurian, M A, Dötsch, J, von Kleist-Retzow, J-C, Klopstock, T, Wagner, M, Yip, C, Roos, A, Carsetti, R, Dionisi-Vici, C, Gautel, M, Duchen, M R, Antebi, A, Houlden, H, Fanto, M & Jungbluth, H 2025, 'Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism', Annals of Neurology, vol. 98, no. 5, pp. 932-950. https://doi.org/10.1002/ana.78013
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy
Academic Journal
Jacob, Maureen; Kölbel, Heike; Harrer, Philip; Kopajtich, Robert; Munot, Pinki; Achleitner, Melanie T.; Badmann, Susann; Brugger, Melanie; Brunet, Theresa; Bonne, Gisèle; Codina, Marta; Ebner, Laura; Eshraghi, Peyman; Eyring, Katharina; Farhat, Ahmad Shah; Feichtinger, René G.; Graf, Elisabeth; Marcé-Grau, Anna; Hahn, Andreas; Houlden, Henry; Karimiani, Ehsan Ghayoor; Manel, Véronique; Mayerhanser, Katharina; Nectoux, Juliette; Nelson, Isabelle; Phadke, Rahul; Prokisch, Holger; Sadeghian, Saeid; Saparov, Alice; Schänzer, Anne; Schara-Schmidt, Ulrike; Schmidt, Julia; Schuler, Rahel; Sewry, Caroline; Shariati, Gholamreza; Slanz, Silke; Smirnov, Dmitrii; Sukenik-Halevy, Rivka; Tajsharghi, Homa; Toosi, Mehran Beiraghi; Trujillano, Laura; Weis, Joachim; Wilson, Louise C.; Yaou, Rabah Ben; Zamani, Mina; Zech, Michael; Zschüntzsch, Jana; Kornak, Uwe; Goméz-Andrés, David; Maroofian, Reza; Winkelmann, Juliane; Roos, Andreas; Distelmaier, Felix; Mayr, Johannes A.; Wagner, Matias
Brain. 149(2):653-667
Academic Journal
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
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
Keit Men Wong; Reza Maroofian; Kolja Meier; Susann Diegmann; Tinatin Tkemaladze; Javeria Raza Alvi; Behnoosh Tasharrofi; Stephanie Efthymiou; Alexander Munchau; G. Christoph Korenke; Naif Almontashiri; Wafaa Eyaid; Amna Kashgari; Modhi Alotaibi; Jutta Gärtner; Brenda Huppke; Mostafa Asadollahi; Gocha Chikvinidze; Mohammad Keramatipour; Tipu Sultan; Holger Thiele; Peter Nürnberg; Markus H. Gräler; Henry Houlden; Peter Huppke
Mov Disord
Academic Journal
Bayat, Allan; Borroto, Maria Carla; Salian, Smrithi; Zaki, Maha S.; Benkerroum, Hind; Elbendary, Hasnaa M.; Nguyen, Thi Tuyet Mai; Sadek, Abdelrahim A.; Carli, Diana; Brusco, Alfredo; Ferrero, Giovanni Battista; Tartaglia, Marco; Hay, Eleanor; Krey, Ilona; A. Jamra, Rami; Bartolomaeus, Tobias; Knaus, Alexej; Gleeson, Joseph G.; Houlden, Henry; Dominik, Natalia; Jackson, Adam; Douzgou Houge, Sofia; Banka, Siddharth; Mohammadi-asl, Javad; Hajjari, Mohammadreza; Azizimalamiri, Reza; Nourbakhsh, Pardis; Neissi, Mostafa; Scardamaglia, Annarita; Li, Dianfan; Kinoshita, Taroh; Maroofian, Reza; Murakami, Yoshiko; Campeau, Philippe M.
European Journal of Human Genetics. 33(12):1636-1646
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
Brain. 146(12):5031-5043
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
Dharmadhikari, Avinash V.; Abad, Maria Alba; Khan, Sheraz; Maroofian, Reza; Sands, Tristan T.; Ullah, Farid; Samejima, Itaru; Shen, Yanwen; Wear, Martin A.; Moore, Kiara E.; Kondakova, Elena; Mitina, Natalia; Schaub, Theres; Lee, Grace K.; Umandap, Christine H.; Berger, Sara M.; Iglesias, Alejandro D.; Popp, Bernt; Abou Jamra, Rami; Gabriel, Heinz; Rentas, Stefan; Rippert, Alyssa L.; Gray, Christopher; Izumi, Kosuke; Conlin, Laura K.; Koboldt, Daniel C.; Mosher, Theresa Mihalic; Hickey, Scott E.; Albert, Dara V. F.; Norwood, Haley; Lewanda, Amy Feldman; Dai, Hongzheng; Liu, Pengfei; Mitani, Tadahiro; Marafi, Dana; Eker, Hatice Koçak; Pehlivan, Davut; Posey, Jennifer E.; Lippa, Natalie C.; Vena, Natalie; Heinzen, Erin L.; Goldstein, David B.; Mignot, Cyril; de Sainte Agathe, Jean-Madeleine; Al-Sannaa, Nouriya Abbas; Zamani, Mina; Sadeghian, Saeid; Azizimalamiri, Reza; Seifia, Tahere; Zaki, Maha S.; Abdel-Salam, Ghada M. H.; Abdel-Hamid, Mohamed S.; Alabdi, Lama; Alkuraya, Fowzan Sami; Dawoud, Heba; Lofty, Aya; Bauer, Peter; Zifarelli, Giovanni; Afzal, Erum; Zafar, Faisal; Efthymiou, Stephanie; Gossett, Daniel; Towne, Meghan C.; Yeneabat, Raey; Perez-Duenas, Belen; Cazurro-Gutierrez, Ana; Verdura, Edgard; Cantarin-Extremera, Veronica; Marques, Ana do Vale; Helwak, Aleksandra; Tollervey, David; Wontakal, Sandeep N.; Aggarwal, Vimla S.; Rosenfeld, Jill A.; Tarabykin, Victor; Ohta, Shinya; Lupski, James R.; Houlden, Henry; Earnshaw, William C.; Davis, Erica E.; Jeyaprakash, A. Arockia; Liao, Jun
Nature Communications. 16(1)
Academic Journal
Owrang, Daniel; Rad, Aboulfazl; Alerasool, Masoome; Kolb, Susanne M.; Lin, Sheng-Jia; Doll, Julia; Alidadiani, Neda; Ghaderi, Shahrooz; Hofrichter, Michaela A. H.; Maroofian, Reza; Varshney, Gaurav K.; Mojarrad, Majid; Bartsch, Oliver; Haaf, Thomas; Vona, Barbara
Molecular Neurobiology. 63(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
Vincke, Lieselot; Van Schil, Kristof; Ahmadieh, Hamid; Moghaddasi, Afrooz; Sabbaghi, Hamideh; Daftarian, Narsis; Motevasseli, Tahmineh; Javanparast Sheykhani, Leila; Dehghani, Mohammadreza; Vahidi Mehrjardi, Mohammad Yahya; De Zaeytijd, Julie; De Bruyne, Marieke; Mahieu, Quinten; Al-Hajj, Ebrahim; Del Pozo-Valero, Marta; Rosseel, Toon; Van Heetvelde, Mattias; Maroofian, Reza; Suri, Fatemeh; Bauwens, Miriam; De Baere, Elfride
npj Genomic Medicine. 10(1)
Academic Journal
Nou-Fontanet, Laia, MD; Ousingsawat, Jiraporn, PhD; Aziz, Majid, MD; Maroofian, Reza, PhD; Karimiani, Ehsan Ghayoor, MD, PhD; Fernández-López, Anna, MD; Candela-Cantó, Santiago, MD, PhD; Rumià, Jordi, MD, PhD; Dominguez, Ana Maria, MD; Schreiber, Rainer, PhD; Kunzelmann, Karl, MD; Ortigoza-Escobar, Juan Dario, MD, PhD
Pediatric Neurology. 172:46-52
Academic Journal
Fatima Rahman; Luisa Marsili; Domizia Pasquetti; Aboulfazl Rad; Muhammad Nadeem Anjum; Gabriela Oprea; Huma Arshad Cheema; Barbara Vona; Cesar Augusto Alves; Henry Houlden; Shazia Maqbool; Stephanie Efthymiou; Thomas Smol; Reza Maroofian
Eur J Hum Genet
Academic Journal
Semenova, Svetlana A.; Nammi, Deepthi; Garrett, Grace B.; Margolin, Gennady; Sinclair, Jennifer L.; Maroofian, Reza; Caldecott, Keith W.; Burgess, Harold A.
Scientific Reports. 15(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
Rosenhahn, Erik; O'Brien, Thomas J.; Zaki, Maha S.; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; Alkuraya, Fowsan S.; Hashem, Mais O.; Alhashem, Amal; Tabarki, Brahim; Alamri, Abdullah S.; Al Safar, Ayat H.; Bubshait, Dalal K.; Alahmady, Nada F.; Gleeson, Joseph G.; Abdel-Hamid, Mohamed S.; Lesko, Nicole; Ygberg, Sofia; Correia, Sandrina P.; Wredenberg, Anna; Alavi, Shahryar; Seyedhassani, Seyed M.; Ebrahimi Nasab, Mahya; Hussien, Haytham; Omar, Tarek E. I.; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; Abdel-Salam, Ghada M. H.; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; Brunetti-Pierri, Nicola; Omrani, Abdolmajid; Hentschel, Julia; Lemke, Johannes R.; Sticht, Heinrich; Abou Jamra, Rami; Brown, Andre E. X.; Maroofian, Reza; Platzer, Konrad
American Journal of Human Genetics. 109(8):1421-1435
Academic Journal
Pagnamenta, Alistair T.; Diaz-Gonzalez, Francisca; Banos-Pinero, Benito; Ferla, Matteo P.; Toosi, Mehran B.; Calder, Alistair D.; Karimiani, Ehsan G.; Doosti, Mohammad; Wainwright, Andrew; Wordsworth, Paul; Bailey, Kathryn; Ejeskär, Katarina, 1969; Lester, Tracy; Maroofian, Reza; Heath, Karen E.; Tajsharghi, Homa; Shears, Deborah; Taylor, Jenny C.
Journal of Medical Genetics. 59(10):947-950
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