학술논문
'학술논문'
에서 검색결과 29건 | 목록
1~10
Academic Journal
Vong, K.I.; Lee, S.; George, R.; Gerding, B.; James, K.N.; Stanley, V.; Jiang, N.; Alu, K.; Meave, N.; Jiwani, F.; Tang, I.; Nisal, A.; Jhamb, I.; Patel, A.; Patel, A.; McEvoy-Venneri, J.; Barrows, C.; Shen, C.; Ha, Y.-J.; Howarth, R.; Gleeson, J.G.; Magana, T.; Nidhiry, A.S.; Meltzer, H.S.; Au, K.S.; Northrup, H.; Gonda, D.D.; Crowley, T.B.; Zackai, E.H.; Emanuel, B.S.; McDonald-McGinn, D.M.; Au, K.S.; Capra, V.; Martino, J.; Sanna-Cherchi, S.; Haller, M.; Lamb, D.J.; Araújo, C.; Machado, H.R.; Strain, M.; Ashley-Koch, A.E.; Azam, M.; Mumtaz, S.; Bot, G.M.; Finnell, R.H.; Kibar, Z.; Marwan, A.I.; Melikishvili, G.; Yurrita, A.; Meltzer, H.S.; Zaki, M.S.; Mutchinick, O.M.; Mumtaz, S.; Stevenson, D.A.; Medina-Bereciartu, J.R.; Mroczkowski, H.J.; Kolvenbach, C.M.; Shril, S.; Hildebrandt, F.; Ostrander, B.; Noureldeen, M.M.; Salem, A.M.S.; Schindewolf, E.; Moldenhauer, J.; Takahashi, Y.; Garcia-Minaur, S.; Salimi-Dafsari, H.; Nowakowska, B.A.; Phillips, H.W.; Stevenson, R.E.; Hanak, B.; Zaki, M.S.; Kara, B.; Güneş, A.S.; McNamara, H.K.; Aldinger, K.A.; Kirmani, S.; Phelps, I.G.; Deng, M.; Glass, I.A.; Tkemaladze, T.; Morrow, B.
In: Science . (Science, 3 May 2024, 384(6695):584-590)
Academic Journal
Aldinger, K.A.; Thomson, Z.; Haldipur, P.; Doherty, D.; Dobyns, W.B.; Glass, I.A.; Millen, K.J.; Phelps, I.G.; Deng, M.; O’Day, D.; Timms, A.E.; Hirano, M.; Rosenberg, A.B.; Seelig, G.; Santpere, G.; Lorente-Galdos, B.; Gulden, F.O.; Sestan, N.; Roco, C.; Overman, L.M.; Lisgo, S.N.; Alexandre, P.
In: Nature Neuroscience . (Nature Neuroscience, August 2021, 24(8):1163-1175)
Academic Journal
Epting, D.; Ott, E.; Bergmann, C.; Senaratne, L.D.S.; Holmgren, A.; Sumathipala, D.; Barøy, T.; Frengen, E.; Misceo, D.; Larsen, S.M.; Crowley, S.; Strømme, P.; Wallmeier, J.; Bracht, D.; Omran, H.; Frikstad, K.-A.M.; Patzke, S.; Sikiric, A.; Käsmann-Kellner, B.; Decker, E.; Decker, C.; Bachmann, N.; Phelps, I.G.; Doherty, D.; Katsanis, N.; Davis, E.E.; Giles, R.; Schmidts, M.; Zucknick, M.; Lienkamp, S.S.
In: Human Mutation . (Human Mutation, December 2020, 41(12):2179-2194)
Academic Journal
Phelps, I.G.; Dempsey, J.C.; Grout, M.E.; Isabella, C.R.; Doherty, D.; Tully, H.M.; Bachmann-Gagescu, R.
In: Genetics in Medicine . (Genetics in Medicine, 1 February 2018, 20(2):223-233)
Academic Journal
Vilboux, T.; Cullinane, A.R.; Yildirimli, D.; Malicdan, M.C.V.; Gahl, W.A.; Gunay-Aygun, M.; Doherty, D.A.; Glass, I.A.; Phelps, I.G.; Parisi, M.A.; Soldatos, A.; Zein, W.; Brooks, B.P.; Heller, T.; Oden, N.L.; Vemulapalli, M.; Mullikin, J.C.
In: Genetics in Medicine . (Genetics in Medicine, 1 August 2017, 19(8):875-882)
Academic Journal
Van De Weghe, J.C.; Grout, M.E.; Aldinger, K.A.; Dempsey, J.C.; Cheng, Y.-H.H.; Phelps, I.G.; Bamshad, M.J.; Dobyns, W.B.; Doherty, D.; Rusterholz, T.D.S.; Gesemann, M.; Neuhauss, S.C.F.; Bachmann-Gagescu, R.; Latour, B.; Roepman, R.; Shaheen, R.; Maddirevula, S.; Alanzi, T.; Rawashdeh, R.; Khan, A.O.; Alkuraya, F.S.; Goel, H.; Birk, O.S.; Nickerson, D.A.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 6 July 2017, 101(1):23-36)
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, May 2017, 173(5):1237-1242)
Academic Journal
Kane, M.S.; Davids, M.; Adams, C.J.; Golas, G.; Malicdan, M.C.V.; Gahl, W.A.; Boerkoel, C.F.; Bond, M.R.; Hanover, J.A.; Grout, M.E.; Phelps, I.G.; O'Day, D.R.; Dempsey, J.C.; Doherty, D.; Li, X.; He, M.; Vezina, G.; Gunay-Aygun, M.
In: Cilia . (Cilia, 23 March 2017, 6(1))
Academic Journal
Chong, J.X.; Phelps, I.G.; Dempsey, J.C.; Nguyen, A.; Marvin, C.T.; Bamshad, M.J.; Doherty, D.; Caputo, V.; Pizzuti, A.; Stella, L.; Worgan, L.; Leuzzi, V.; Webster, R.; Ardern-Holmes, S.; Ishak, G.E.; Richmond, Z.; Chopra, M.; Ortiz-Gonzalez, X.R.; Tartaglia, M.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 7 April 2016, 98(4):772-781)
Academic Journal
Schueler, M.; Halbritter, J.; Braun, D.A.; Porath, J.D.; Gee, H.Y.; Lawson, J.A.; Hildebrandt, F.; Phelps, I.G.; Doherty, D.; Otto, E.A.; Shendure, J.; O'Roak, B.J.; Nabhan, M.M.; Soliman, N.A.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 2016, 53(3):208-214)
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[AR] Phelps, I.G.
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