학술논문
'학술논문'
에서 검색결과 140건 | 목록
1~10
Academic Journal
McCormick, E.M.; de Barcelos, I.P.; Goldstein, A.; Falk, M.J.; Zolkipli-Cunningham, Z.; Keller, K.; Wallace, D.; Taylor, J.P.; Coffey, A.J.; Bluske, K.; Clause, A.R.; Rajkumar, R.; Shen, L.; Gai, X.; Krotoski, D.; Harding, B.; Dulik, M.C.; Rahman, S.; Alves, C.A.P.F.; Ardissone, A.; Bai, R.; Bertini, E.; Christodoulou, J.; Thorburn, D.; Copeland, W.C.; Diaz, G.A.; Diodato, D.; Enns, G.; Feigenbaum, A.; Haas, R.; Fratter, C.; Sergeant, K.; Smith, C.; Ghezzi, D.; Gropman, A.; Karaa, A.; Koenig, M.K.; Monteleone, B.; Parikh, S.; Duenas, B.P.; Saada, A.; Saneto, R.P.; Shoffner, J.; Stanley, C.; Thiffault, I.; Walker, M.; Wong, L.-J.
In: Annals of Neurology . (Annals of Neurology, October 2023, 94(4):696-712)
Academic Journal
Paul, M.S.; Chao, H.-T.; Pan, H.; Duncan, A.R.; Genetti, C.A.; Grant, P.E.; Agrawal, P.B.; Jackson, A.; Douzgou, S.; Pirt, H.; Banka, S.; Shi, J.; Pinelli, M.; Brunetti-Pierri, N.; Garza-Flores, A.; Shahani, D.; Saneto, R.P.; Zampino, G.; Leoni, C.; Agolini, E.; Novelli, A.; Blümlein, U.; Matzker, E.; Haack, T.B.; Alhaddad, B.; Heinritz, W.; Abou Jamra, R.; Bartolomaeus, T.; AlHamdan, S.; Carapito, R.; Bahram, S.; Isidor, B.; Ritter, A.; Izumi, K.; Shakked, B.P.; Barel, O.; Ben Zeev, B.; Begtrup, A.; Carere, D.A.; Mullegama, S.V.; Palculict, T.B.; Calame, D.G.; Schwan, K.; Aycinena, A.R.P.; Traberg, R.; Ismayilova, N.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 5 January 2023, 110(1):120-145)
Academic Journal
In: Pediatric Annals . (Pediatric Annals, 2023, 52(10):e381-e387)
Academic Journal
Shelkowitz, E.; Long, P.; Van Hove, J.L.K.; Saneto, R.P.; Al-Hertani, W.; Michl, E.J.; Lubout, C.M.A.; Stence, N.V.; Brown, M.S.; Walleigh, D.; Nelson, J.A.; Perez, F.E.; Shaw, D.W.W.
In: Orphanet Journal of Rare Diseases . (Orphanet Journal of Rare Diseases, December 2022, 17(1))
Academic Journal
Goldstein, H.E.; Poliakov, A.; Novotny, E.J.; Saneto, R.P.; Warner, M.H.; Ojemann, J.G.; Shurtleff, H.A.; Tran, K.; Shaw, D.W.; Wright, J.N.; Barry, D.; Hauptman, J.S.; Marashly, A.
In: Journal of Neurosurgery: Pediatrics . (Journal of Neurosurgery: Pediatrics, September 2022, 30(3):272-283)
Academic Journal
Striano, P.; Auvin, S.; Collins, A.; Horvath, R.; Scheffer, I.E.; Tzadok, M.; Miller, I.; Kay Koenig, M.; Lacy, A.; Davis, R.; Garcia-Cazorla, A.; Saneto, R.P.; Brandabur, M.; Blair, S.; Koutsoukos, T.; De Vivo, D.
In: Epilepsia . (Epilepsia, July 2022, 63(7):1748-1760)
Academic Journal
Davies, O.M.T.; Garzon, M.C.; Frieden, I.J.; Cottrell, C.E.; Gripp, K.W.; Saneto, R.P.; Mirzaa, G.M.; Shwayder, T.; Drolet, B.A.
In: Journal of the American Academy of Dermatology . (Journal of the American Academy of Dermatology, July 2022, 87(1):162-164)
Academic Journal
In: Frontiers in Molecular Biosciences . (Frontiers in Molecular Biosciences, 14 June 2022, 9)
Academic Journal
Emmanuele, V.; Rosales, X.Q.; Barca, E.; Thompson, J.L.; DiMauro, S.; Hirano, M.; Ganesh, J.; Vladutiu, G.; Haas, R.; Kerr, D.; Saneto, R.P.; Cohen, B.H.; Van Hove, J.L.K.; Scaglia, F.; Hoppel, C.; Buchsbaum, R.
In: Molecular Genetics and Metabolism . (Molecular Genetics and Metabolism, June 2022, 136(2):125-131)
Academic Journal
Knight, E.M.P.; Amin, S.; Bahi-Buisson, N.; Benke, T.A.; Demarest, S.T.; Cross, J.H.; Olson, H.E.; Specchio, N.; Fleming, T.R.; Aimetti, A.A.; Gasior, M.; Devinsky, O.; Belousova, E.; Belyaev, O.; Ben-Zeev, B.; Brunklaus, A.; Ciliberto, M.A.; Darra, F.; Davis, R.; De Giorgis, V.; Doronina, O.; Fahey, M.; Guerrini, R.; Heydemann, P.; Khaletskaya, O.; Lisewski, P.; Marsh, E.D.; Moosa, A.N.; Perry, S.; Philip, S.; Rajaraman, R.R.; Renfroe, B.; Saneto, R.P.; Scheffer, I.E.; Sogawa, Y.; Suter, B.; Sweney, M.T.; Tarquinio, D.; Veggiotti, P.; Wallace, G.; Weisenberg, J.; Wilfong, A.; Wirrell, E.C.; Zafar, M.; Zolnowska, M.
In: The Lancet Neurology . (The Lancet Neurology, May 2022, 21(5):417-427)
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[AR] Saneto, R.P.
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