학술논문
'학술논문'
에서 검색결과 271건 | 목록
1~10
Academic Journal
Parobek, C.M.; Shanahan, M.A.; Burnett, B.A.; Clark, S.L.; Zemet, R.; Mizerik, E.; Rosenfeld, J.A.; Vossaert, L.; Lalani, S.R.; Hunter, J.V.
In: Clinical Genetics . (Clinical Genetics, 2024)
Academic Journal
Gerard, A.; Mizerik, E.; Lalani, S.R.; Scaglia, F.; Mohila, C.A.; Kearney, D.L.; AlAwami, S.; Hunter, J.V.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, 2024)
Academic Journal
Duan, R.; Marafi, D.; Saad, A.K.; Du, H.; Fatih, J.M.; Mitani, T.; Withers, M.A.; Coban-Akdemir, Z.; Calame, D.G.; Pehlivan, D.; Gibbs, R.A.; Posey, J.E.; Lupski, J.R.; Xia, Z.-J.; Ng, B.G.; Freeze, H.H.; Maroofian, R.; Efthymiou, S.; Houlden, H.; Sumya, F.T.; Lupashin, V.V.; Hunter, J.V.; Elbendary, H.M.; Zaki, M.S.; Baig, S.M.; Abdullah, U.; Ali, Z.; Murphy, D.; Jhangiani, S.N.
In: Journal of Inherited Metabolic Disease . (Journal of Inherited Metabolic Disease, November 2023, 46(6):1195-1205)
Academic Journal
Calame, D.G.; Herman, I.; Pehlivan, D.; Gerard, A.; Lalani, S.; Lupski, J.R.; Jolly, A.; Dawood, M.; Fatih, J.M.; Du, H.; Mitani, T.; Coban-Akdemir, Z.; Marafi, D.; Posey, J.E.; Gibbs, R.A.; Guo, T.; Wang, C.; Liu, L.; Cheung, H.-H.; Gu, S.; Garrett, L.; Becker, L.; Rathkolb, B.; Gerlini, R.; Seisenberger, C.; Marschall, S.; Gailus-Durner, V.; Fuchs, H.; Hrabě de Angelis, M.; Hölter, S.M.; Jhangiani, S.N.; Kurolap, A.; Henig, N.Z.; Yaron, Y.; Hunter, J.V.; Heidlebaugh, A.; Challman, T.; Spillmann, R.C.; Tan, Q.K.G.; Shashi, V.; Revah-Politi, A.; Baugh, E.; Iglesias, A.; Guzman, E.; Boddaert, N.; Rondeau, S.; Ormieres, C.; Barcia, G.; Thiffault, I.; Pastinen, T.; Sheikh, K.; Biliciler, S.; Mei, D.; Melani, F.; Guerrini, R.; Steele, M.; Wakeling, E.; Østergaard, E.; Nazaryan-Petersen, L.; Millan, F.; Santiago-Sim, T.; Thevenon, J.; Bruel, A.-L.; Thauvin-Robinet, C.; Popp, D.; Platzer, K.; Gawlinski, P.; Wiszniewski, W.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 August 2023, 110(8):1394-1413)
Academic Journal
In: Neurology . (Neurology, 18 April 2023, 100(16):S230-S231)
Academic Journal
Dawood, M.; Akay, G.; Mitani, T.; Marafi, D.; Fatih, J.M.; Punetha, J.; Grochowski, C.M.; Du, H.; Jolly, A.; Li, H.; Coban-Akdemir, Z.; Sedlazeck, F.J.; Jhangiani, S.N.; Muzny, D.; Pehlivan, D.; Posey, J.E.; Carvalho, C.M.B.; Gibbs, R.A.; Lupski, J.R.; Gezdirici, A.; Najmabadi, H.; Kahrizi, K.; Hunter, J.V.
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, March 2023, 191(3):794-804)
Academic Journal
Kho, J.; Polak, U.; Jiang, M.-M.; Odom, J.D.; Ali, S.M.; Burrage, L.C.; Nagamani, S.C.S.; Jin, Z.; Lee, B.; Hunter, J.V.; Pautler, R.G.; Thompson, H.P.; Urayama, A.
In: JCI Insight . (JCI Insight, 2023, 8(17))
Academic Journal
Hijazi, H.; Pehlivan, D.; Li, Y.; Fatih, J.M.; Marafi, D.; Rosenfeld, J.A.; Coban-Akdemir, Z.; Bi, W.; Gibbs, R.A.; Carvalho, C.M.B.; Posey, J.E.; Lupski, J.R.; Reis, L.M.; Muriello, M.; Syverson, E.; Semina, E.V.; Bernstein, J.A.; Bonner, D.; Estiar, M.A.; Gan-Or, Z.; Rouleau, G.A.; Lyulcheva, E.; Greenhalgh, L.; Tessarech, M.; Colin, E.; Guichet, A.; Bonneau, D.; van Jaarsveld, R.H.; Lachmeijer, A.M.A.; Ruaud, L.; Levy, J.; Tabet, A.-C.; Ploski, R.; Rydzanicz, M.; Kępczyński, Ł.; Połatyńska, K.; Hobson, G.M.; Hunter, J.V.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 1 December 2022, 109(12):2270-2282)
Academic Journal
Boguniewicz, J.; Demmler-Harrison, G.J.; Dutta, A.; Cameron, L.H.; Lotze, T.E.; Jarjour, I.T.; Pareek, A.V.; Whitehead, W.E.; Frontiero, J.; Fogarty, T.; Hunter, J.V.; Ogunbona, O.B.
In: Pediatric Infectious Disease Journal . (Pediatric Infectious Disease Journal, 1 November 2022, 41(11):E481-E486)
Academic Journal
Meyers, B.; Lee, V.K.; Dennis, L.; Wallace, J.; Schmithorst, V.; Panigrahy, A.; Ceschin, R.; Votava-Smith, J.K.; Tran, N.N.; Rajagopalan, V.; Herrup, E.; Baust, T.; Hunter, J.V.; Licht, D.J.; Gaynor, J.W.; Andropoulos, D.B.
In: Neuroimage: Reports . (Neuroimage: Reports, September 2022, 2(3))
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[AR] Hunter, J.V.
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