학술논문
'학술논문'
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1~10
Academic Journal
Rosenhahn, E; O'Brien, TJ; Zaki, MS; Sorge, I; Wieczorek, D; Rostasy, K; Vitobello, A; Nambot, S; Alkuraya, FS; Hashem, MO; Alhashem, A; Tabarki, B; Alamri, AS; Al Safar, AH; Bubshait, DK; Alahmady, NF; Gleeson, JG; Abdel-Hamid, MS; Lesko, N; Ygberg, S; Correia, SP; Wredenberg, A; Alavi, S; Seyedhassani, SM; Nasab, ME; Hussien, H; Omar, TEI; Harzallah, I; Touraine, R; Tajsharghi, H; Morsy, H; Houlden, H; Shahrooei, M; Ghavideldarestani, M; Abdel-Salam, GMH; Torella, A; Zanobio, M; Terrone, G; Brunetti-Pierri, N; Omrani, A; Hentschel, J; Lemke, JR; Sticht, H; Abou Jamra, R; Brown, AEX; Maroofian, R; Platzer, K
American journal of human genetics. 109(8):1421-1435
Academic Journal
Wiessner, M; Maroofian, R; Ni, MY; Pedroni, A; Muller, JS; Stucka, R; Beetz, C; Efthymiou, S; Santorelli, FM; Alfares, AA; Zhu, CL; Meszarosova, AU; Alehabib, E; Bakhtiari, S; Janecke, AR; Otero, MG; Chen, JYH; Peterson, JT; Strom, TM; De Jonghe, P; Deconinck, T; De Ridder, W; De Winter, J; Pasquariello, R; Ricca, I; Alfadhel, M; van de Warrenburg, BP; Portier, R; Bergmann, C; Firouzabadi, SG; Jin, SC; Bilguvar, K; Hamed, S; Abdelhameed, M; Haridy, NA; Maqbool, S; Rahman, F; Anwar, N; Carmichael, J; Pagnamenta, A; Wood, NW; Mau-Them, FT; Haack, T; Di Rocco, M; Ceccherini, I; Iacomino, M; Zara, F; Salpietro, V; Scala, M; Rusmini, M; Xu, YR; Wang, YH; Suzuki, Y; Koh, K; Nan, HT; Ishiura, H; Tsuji, S; Lambert, L; Schmitt, E; Lacaze, E; Kupper, H; Dredge, D; Skraban, C; Goldstein, A; Willis, MJH; Grand, K; Graham, JM; Lewis, RA; Millan, F; Duman, O; Dundar, N; Uyanik, G; Schols, L; Nurnberg, P; Nurnberg, G; Bordes, AC; Seeman, P; Kuchar, M; Darvish, H; Rebelo, A; Boucanova, F; Medard, JJ; Chrast, R; Auer-Grumbach, M; Alkuraya, FS; Shamseldin, H; Al Tala, S; Varaghchi, JR; Najafi, M; Deschner, S; Glaser, D; Huttel, W; Kruer, MC; Kamsteeg, EJ; Takiyama, Y; Zuchner, S; Baets, J; Synofzik, M; Schule, R; Horvath, R; Houlden, H; Bartesaghi, L; Lee, HJ; Ampatzis, K; Pierson, TM; Senderek, J
Brain : a journal of neurology. 144(5):1422-1434
Academic Journal
Alistair T. Pagnamenta; Carme Camps; Edoardo Giacopuzzi; John M. Taylor; Mona Hashim; Eduardo Calpena; Pamela J. Kaisaki; Akiko Hashimoto; Jing Yu; Edward Sanders; Ron Schwessinger; Jim R. Hughes; Gerton Lunter; Helene Dreau; Matteo Ferla; Lukas Lange; Yesim Kesim; Vassilis Ragoussis; Dimitrios V. Vavoulis; Holger Allroggen; Olaf Ansorge; Christian Babbs; Siddharth Banka; Benito Baños-Piñero; David Beeson; Tal Ben-Ami; David L. Bennett; Celeste Bento; Edward Blair; Charlotte Brasch-Andersen; Katherine R. Bull; Holger Cario; Deirdre Cilliers; Valerio Conti; E. Graham Davies; Fatima Dhalla; Beatriz Diez Dacal; Yin Dong; James E. Dunford; Renzo Guerrini; Adrian L. Harris; Jane Hartley; Georg Hollander; Kassim Javaid; Maureen Kane; Deirdre Kelly; Dominic Kelly; Samantha J. L. Knight; Alexandra Y. Kreins; Erika M. Kvikstad; Craig B. Langman; Tracy Lester; Kate E. Lines; Simon R. Lord; Xin Lu; Sahar Mansour; Adnan Manzur; Reza Maroofian; Brian Marsden; Joanne Mason; Simon J. McGowan; Davide Mei; Hana Mlcochova; Yoshiko Murakami; Andrea H. Németh; Steven Okoli; Elizabeth Ormondroyd; Lilian Bomme Ousager; Jacqueline Palace; Smita Y. Patel; Melissa M. Pentony; Chris Pugh; Aboulfazl Rad; Archana Ramesh; Simone G. Riva; Irene Roberts; Noémi Roy; Outi Salminen; Kyleen D. Schilling; Caroline Scott; Arjune Sen; Conrad Smith; Mark Stevenson; Rajesh V. Thakker; Stephen R. F. Twigg; Holm H. Uhlig; Richard van Wijk; Barbara Vona; Steven Wall; Jing Wang; Hugh Watkins; Jaroslav Zak; Anna H. Schuh; Usha Kini; Andrew O. M. Wilkie; Niko Popitsch; Jenny C. Taylor
Genome Medicine, Vol 15, Iss 1, Pp 1-25 (2023)
Academic Journal
Pagnamenta, Alistair T.; Camps, Carme; Giacopuzzi, Edoardo; Taylor, John M.; Hashim, Mona; Calpena, Eduardo; Kaisaki, Pamela J.; Hashimoto, Akiko; Yu, Jing; Sanders, Edward; Schwessinger, Ron; Hughes, Jim R.; Lunter, Gerton; Dreau, Helene; Ferla, Matteo; Lange, Lukas; Kesim, Yesim; Ragoussis, Vassilis; Vavoulis, Dimitrios V.; Allroggen, Holger; Ansorge, Olaf; Babbs, Christian; Banka, Siddharth; Baños-Piñero, Benito; Beeson, David; Ben-Ami, Tal; Bennett, David L.; Bento, Celeste; Blair, Edward; Brasch-Andersen, Charlotte; Bull, Katherine R.; Cario, Holger; Cilliers, Deirdre; Conti, Valerio; Davies, E. Graham; Dhalla, Fatima; Dacal, Beatriz Diez; Dong, Yin; Dunford, James E.; Guerrini, Renzo; Harris, Adrian L.; Hartley, Jane; Hollander, Georg; Javaid, Kassim; Kane, Maureen; Kelly, Deirdre; Kelly, Dominic; Knight, Samantha J. L.; Kreins, Alexandra Y.; Kvikstad, Erika M.; Langman, Craig B.; Lester, Tracy; Lines, Kate E.; Lord, Simon R.; Lu, Xin; Mansour, Sahar; Manzur, Adnan; Maroofian, Reza; Marsden, Brian; Mason, Joanne; McGowan, Simon J.; Mei, Davide; Mlcochova, Hana; Murakami, Yoshiko; Németh, Andrea H.; Okoli, Steven; Ormondroyd, Elizabeth; Ousager, Lilian Bomme; Palace, Jacqueline; Patel, Smita Y.; Pentony, Melissa M.; Pugh, Chris; Rad, Aboulfazl; Ramesh, Archana; Riva, Simone G.; Roberts, Irene; Roy, Noémi; Salminen, Outi; Schilling, Kyleen D.; Scott, Caroline; Sen, Arjune; Smith, Conrad; Stevenson, Mark; Thakker, Rajesh V.; Twigg, Stephen R. F.; Uhlig, Holm H.; van Wijk, Richard; Vona, Barbara; Wall, Steven; Wang, Jing; Watkins, Hugh; Zak, Jaroslav; Schuh, Anna H.; Kini, Usha; Wilkie, Andrew O. M.; Popitsch, Niko; Taylor, Jenny C.
Genome Medicine. 15(1)
Academic Journal
Sczakiel, Henrike L.; Zhao, Max; Wollert-Wulf, Brigitte; Danyel, Magdalena; Ehmke, Nadja; Stoltenburg, Corinna; Damseh, Nadirah; Al-Ashhab, Motee; Balci, Tugce B.; Osmond, Matthew; Andrade, Andrea; Schallner, Jens; Porrmann, Joseph; McDonald, Kimberly; Liao, Mingjuan; Oppermann, Henry; Platzer, Konrad; Dierksen, Nadine; Mojarrad, Majid; Eslahi, Atieh; Bakaeean, Behnaz; Calame, Daniel G.; Lupski, James R.; Firoozfar, Zahra; Seyedhassani, Seyed Mohammad; Mohammadi, Seyed Ahmad; Anwaar, Najwa; Rahman, Fatima; Seelow, Dominik; Janz, Martin; Horn, Denise; Maroofian, Reza; Boschann, Felix
European Journal of Human Genetics. 31(8):905-917
Academic Journal
Hedberg-Oldfors, C; Abramsson, A; Osborn, DPS; Danielsson, O; Fazlinezhad, A; Nilipour, Y; Hubbert, L; Nennesmo, I; Visuttijai, K; Bharj, J; Petropoulou, E; Shoreim, A; Vona, B; Ahangari, N; Lopez, MD; Doosti, M; Banote, RK; Maroofian, R; Edling, M; Taherpour, M; Zetterberg, H; Karimiani, EG; Oldfors, A; Jamshidi, Y
Human molecular genetics. 28(11):1919-1929
Academic Journal
Van Haute, Lindsey; O’Connor, Emily; Díaz-Maldonado, Héctor; Munro, Benjamin; Polavarapu, Kiran; Hock, Daniella H.; Arunachal, Gautham; Athanasiou-Fragkouli, Alkyoni; Bardhan, Mainak; Barth, Magalie; Bonneau, Dominique; Brunetti-Pierri, Nicola; Cappuccio, Gerarda; Caruana, Nikeisha J.; Dominik, Natalia; Goel, Himanshu; Helman, Guy; Houlden, Henry; Lenaers, Guy; Mention, Karine; Murphy, David; Nandeesh, Bevinahalli; Olimpio, Catarina; Powell, Christopher A.; Preethish-Kumar, Veeramani; Procaccio, Vincent; Rius, Rocio; Rebelo-Guiomar, Pedro; Simons, Cas; Vengalil, Seena; Zaki, Maha S.; Ziegler, Alban; Thorburn, David R.; Stroud, David A.; Maroofian, Reza; Christodoulou, John; Gustafsson, Claes; Nalini, Atchayaram; Lochmüller, Hanns; Minczuk, Michal; Horvath, Rita
Nature Communications. 14(1)
Academic Journal
Eboni M. V. Bucknor; Errin Johnson; Stephanie Efthymiou; Javeria R. Alvi; Tipu Sultan; Henry Houlden; Reza Maroofian; Ehsan G. Karimiani; Mattéa J. Finelli; Peter L. Oliver
Antioxidants, Vol 13, Iss 6, p 685 (2024)
Academic Journal
Rice, GI; Kitabayashi, N; Barth, M; Briggs, TA; Burton, ACE; Carpanelli, ML; Cerisola, AM; Colson, C; Dale, RC; Danti, FR; Darin, N; De Azua, B; De Giorgis, V; De Goede, CGL; Desguerre, I; De Laet, C; Eslahi, A; Fahey, MC; Fallon, P; Fay, A; Fazzi, E; Gorman, MP; Gowrinathan, NR; Hully, M; Kurian, MA; Leboucq, N; Lin, JPSM; Lines, MA; Mar, SS; Maroofian, R; Marti-Sanchez, L; McCullagh, G; Mojarrad, M; Narayanan, V; Orcesi, S; Ortigoza-Escobar, JD; Perez-Duenas, B; Petit, F; Ramsey, KM; Rasmussen, M; Rivier, F; Rodriguez-Pombo, P; Roubertie, A; Stodberg, TI; Toosi, MB; Toutain, A; Uettwiller, F; Ulrick, N; Vanderver, A; Waldman, A; Livingston, JH; Crow, YJ
Neuropediatrics. 48(3):166-184
Academic Journal
Hengel, Holger; Hannan, Shabab B; Dyack, Sarah; MacKay, Sara B; Schatz, Ulrich; Fleger, Martin; Kurringer, Andreas; Balousha, Ghassan; Ghanim, Zaid; Alkuraya, Fowzan S; Alzaidan, Hamad; Alsaif, Hessa S; Mitani, Tadahiro; Bozdogan, Sevcan; Pehlivan, Davut; Lupski, James R; Gleeson, Joseph J; Dehghani, Mohammadreza; Mehrjardi, Mohammad YV; Sherr, Elliott H; Parks, Kendall C; Argilli, Emanuela; Begtrup, Amber; Galehdari, Hamid; Balousha, Osama; Shariati, Gholamreza; Mazaheri, Neda; Malamiri, Reza A; Pagnamenta, Alistair T; Kingston, Helen; Banka, Siddharth; Jackson, Adam; Osmond, Mathew; Consortium, Care4Rare Canada; Consortium, Genomics England Research; Rieß, Angelika; Haack, Tobias B; Nägele, Thomas; Schuster, Stefanie; Hauser, Stefan; Admard, Jakob; Casadei, Nicolas; Velic, Ana; Macek, Boris; Ossowski, Stephan; Houlden, Henry; Maroofian, Reza; Schöls, Ludger
American Journal of Human Genetics. 108(6)
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