학술논문
'학술논문'
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1~10
Academic Journal
Hikmat, O; Isohanni, P; Keshavan, N; Ferla, MP; Fassone, E; Abbott, MA; Bellusci, M; Darin, N; Dimmock, D; Ghezzi, D; Houlden, H; Invernizzi, F; Jaman, NBK; Kurian, MA; Morava, E; Naess, K; Ortigoza-Escobar, JD; Parikh, S; Pennisi, A; Barcia, G; Tylleskar, KB; Brackman, D; Wortmann, SB; Taylor, JC; Bindoff, LA; Fellman, V; Rahman, S
Annals of clinical and translational neurology. 8(11):2155-2165
Academic Journal
Radio, FC; Pang, KF; Ciolfi, A; Levy, MA; Hernandez-Garcia, A; Pedace, L; Pantaleoni, F; Liu, ZD; de Boer, E; Jackson, A; Bruselles, A; McConkey, H; Stellacci, E; Lo Cicero, S; Motta, M; Carrozzo, R; Dentici, ML; McWalter, K; Desai, M; Monaghan, KG; Telegrafi, A; Philippe, C; Vitobello, A; Au, M; Grand, K; Sanchez-Lara, PA; Baez, J; Lindstrom, K; Kulch, P; Sebastian, J; Madan-Khetarpal, S; Roadhouse, C; MacKenzie, JJ; Monteleone, B; Saunders, CJ; Cuevas, JKJ; Cross, L; Zhou, DH; Hartley, T; Sawyer, SL; Monteiro, FP; Secches, TV; Kok, F; Schultz-Rogers, LE; Macke, EL; Morava, E; Klee, EW; Kemppainen, J; Iascone, M; Selicorni, A; Tenconi, R; Amor, DJ; Pais, L; Gallacher, L; Turnpenny, PD; Stals, K; Ellard, S; Cabet, S; Lesca, G; Pascal, J; Steindl, K; Ravid, S; Weiss, K; Castle, AMR; Carter, MT; Kalsner, L; de Vries, BBA; van Bon, BW; Wevers, MR; Pfundt, R; Stegmann, APA; Kerr, B; Kingston, HM; Chandler, KE; Sheehan, W; Elias, AF; Shinde, DN; Towne, MC; Robin, NH; Goodloe, D; Vanderver, A; Sherbini, O; Bluske, K; Hagelstrom, RT; Zanus, C; Faletra, F; Musante, L; Kurtz-Nelson, EC; Earl, RK; Anderlid, BM; Morin, G; van Slegtenhorst, M; Diderich, KEM; Brooks, AS; Gribnau, J; Boers, RG; Finestra, TR; Carter, LB; Rauch, A; Gasparini, P; Boycott, KM; Barakat, TS; Graham, JM; Faivre, L; Banka, S; Wang, TY; Eichler, EE; Priolo, M; Dallapiccola, B; Vissers, LELM; Sadikovic, B; Scott, DA; Holder, JL; Tartaglia, M
American journal of human genetics. 108(3):502-516
Academic Journal
Balkan Journal of Medical Genetics, Vol 22, Iss 2, Pp 77-82 (2019)
Academic Journal
Ivan Martínez Duncker; Denisse Mata-Salgado; Ibrahim Shammas; Wasantha Ranatunga; Earnest James Paul Daniel; Mario E. Cruz Muñoz; Melania Abreu; Héctor Mora-Montes; Miao He; Eva Morava; Gildardo Zafra de la Rosa
Frontiers in Genetics, Vol 15 (2024)
Academic Journal
Smith, Richard S; Florio, Marta; Akula, Shyam K; Neil, Jennifer E; Wang, Yidi; Hill, R Sean; Goldman, Melissa; Mullally, Christopher D; Reed, Nora; Bello-Espinosa, Luis; Flores-Sarnat, Laura; Monteiro, Fabiola Paoli; Erasmo, Casella B; Pinto E Vairo, Filippo; Morava, Eva; Barkovich, A James; Gonzalez-Heydrich, Joseph; Brownstein, Catherine A; McCarroll, Steven A; Walsh, Christopher A
Proceedings of the National Academy of Sciences of the United States of America. 118(25)
Academic Journal
Maas, RR; Iwanicka-Pronicka, K; Ucar, SK; Alhaddad, B; AlSayed, M; Al-Owain, MA; Al-Zaidan, HI; Balasubramaniam, S; Baric, I; Bubshait, DK; Burlina, A; Christodoulou, J; Chung, WK; Colombo, R; Darin, N; Freisinger, P; Silva, MTG; Grunewald, S; Haack, TB; van Hasselt, PM; Hikmat, O; Horster, F; Isohanni, P; Ramzan, K; Kovacs-Nagy, R; Krumina, Z; Martin-Hernandez, E; Mayr, JA; McClean, P; De Meirleir, L; Naess, K; Ngu, LH; Pajdowska, M; Rahman, S; Riordan, G; Riley, L; Roeben, B; Rutsch, F; Santer, R; Schiff, M; Seders, M; Sequeira, S; Sperl, W; Staufner, C; Synofzik, M; Taylor, RW; Trubicka, J; Tsiakas, K; Unal, O; Wassmer, E; Wedatilake, Y; Wolff, T; Prokisch, H; Morava, E; Pronicka, E; Wevers, RA; de Brouwer, AP; Wortmann, SB
Annals of neurology. 82(6):1004-1015
Academic Journal
Ng, Bobby G; Eklund, Erik A; Shiryaev, Sergey A; Dong, Yin Y; Abbott, Mary‐Alice; Asteggiano, Carla; Bamshad, Michael J; Barr, Eileen; Bernstein, Jonathan A; Chelakkadan, Shabeed; Christodoulou, John; Chung, Wendy K; Ciliberto, Michael A; Cousin, Janice; Gardiner, Fiona; Ghosh, Suman; Graf, William D; Grunewald, Stephanie; Hammond, Katherine; Hauser, Natalie S; Hoganson, George E; Houck, Kimberly M; Kohler, Jennefer N; Morava, Eva; Larson, Austin A; Liu, Pengfei; Madathil, Sujana; McCormack, Colleen; Meeks, Naomi JL; Miller, Rebecca; Monaghan, Kristin G; Nickerson, Deborah A; Palculict, Timothy Blake; Papazoglu, Gabriela Magali; Pletcher, Beth A; Scheffer, Ingrid E; Schenone, Andrea Beatriz; Schnur, Rhonda E; Si, Yue; Rowe, Leah J; Russi, Alvaro H Serrano; Russo, Rossana Sanchez; Thabet, Farouq; Tuite, Allysa; Villanueva, María Mercedes; Wang, Raymond Y; Webster, Richard I; Wilson, Dorcas; Zalan, Alice; Network, University of Washington Center for Mendelian Genomics Undiagnosed Diseases; Wolfe, Lynne A; Rosenfeld, Jill A; Rhodes, Lindsay; Freeze, Hudson H
Journal of Inherited Metabolic Disease. 43(6)
Academic Journal
C. Pascoal; I. Ferreira; C. Teixeira; E. Almeida; A. Slade; S. Brasil; R. Francisco; A. N. Ligezka; E. Morava; H. Plotkin; J. Jaeken; P. A. Videira; L. Barros; V. dos Reis Ferreira
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-22 (2022)
Academic Journal
Pascoal, C.; Ferreira, I.; Teixeira, C.; Almeida, E.; Slade, A.; Brasil, S.; Francisco, R.; Ligezka, A. N.; Morava, E.; Plotkin, H.; Jaeken, J.; Videira, P. A.; Barros, L.; dos Reis Ferreira, V.
Orphanet Journal of Rare Diseases. 17(1)
Academic Journal
Matheus V. M. B. Wilke; Eva Morava-Kozicz; Matthew J. Koster; Christopher T. Schmitz; Shannon Kaye Foster; Mrinal Patnaik; Kenneth J. Warrington; Eric W. Klee; Filippo Pinto e Vairo
BMC Rheumatology, Vol 6, Iss 1, Pp 1-6 (2022)
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[Author] Morava E
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