학술논문
'학술논문'
에서 검색결과 534건 | 목록
1~10
Academic Journal
Metry, D.; Copp, H.L.; Rialon, K.L.; Iacobas, I.; Baselga, E.; Dobyns, W.B.; Drolet, B.; Frieden, I.J.; Garzon, M.; Haggstrom, A.; Hanson, D.; Hollenbach, L.; Keppler-Noreuil, K.M.; Maheshwari, M.; Siegel, D.H.; Waseem, S.; Dias, M.
In: Journal of Pediatrics . (Journal of Pediatrics, September 2024, 272)
Academic Journal
Pierpont, E.I.; Labounek, R.; Gupta, A.; Lund, T.; Orchard, P.J.; Dobyns, W.B.; Bondy, M.; Paulson, A.; Nestrasil, I.; Metz, A.; Wozniak, J.R.; Mueller, B.A.; Nascene, D.; Shanley, R.; Loes, D.
In: Neurology . (Neurology, 16 August 2024, 103(5))
Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia
Academic Journal
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, March 2024, 194(3))
Academic Journal
Alves, C.A.P.F.; Manteghinejad, A.; Teixeira, S.R.; Andronikou, S.; Whitehead, M.T.; Sidpra, J.; Sudhakar, S.; Mankad, K.; Massey, F.V.; Aldinger, K.A.; Haldipur, P.; Millen, K.J.; Lucato, L.T.; Ferraciolli, S.F.; Öztekin, Ö.; Bhattacharya, D.; Taranath, A.; Prabhu, S.P.; Mirsky, D.M.; Barkovich, A.J.; Barkovich, M.J.; Boltshauser, E.; Dobyns, W.B.
In: American Journal of Neuroradiology . (American Journal of Neuroradiology, 1 October 2023, 44(10):1201-1207)
Academic Journal
Caron, V.; Ngu, A.M.-H.; Meloche, E.; Chorfi, S.; Hamdan, F.F.; Tremblay, A.; Michaud, J.L.; Chassaing, N.; Plaisancié, J.; Calvas, P.; Ragge, N.; Holt, R.; Boschann, F.; Horn, D.; Lakhani, S.A.; Ji, W.; Steiner, L.; Marcadier, J.; Jansen, P.R.; van Hagen, J.M.; van de Pol, L.A.; Russi, A.S.; Le Guyader, G.; Nordenskjöld, M.; Nordgren, A.; Anderlid, B.-M.; Stoltenburg, C.; Drenckhahn, A.; Lefebvre, M.; Attie-Bitach, T.; Forey, P.; Smirnov, V.; Ernould, F.; Jacquemont, M.-L.; Grotto, S.; Alcantud, A.; Coret, A.; Ferrer-Avargues, R.; Srivastava, S.; Vincent-Delorme, C.; Romoser, S.; Safina, N.; Saade, D.; Lupski, J.R.; Calame, D.G.; Geneviève, D.; Chatron, N.; Schluth-Bolard, C.; Myers, K.A.; Dobyns, W.B.; Salmon, C.; Elmslie, F.; Allaire, M.; Prigozhin, D.M.
In: Genetics in Medicine . (Genetics in Medicine, August 2023, 25(8))
Academic Journal
Mattison, K.A.; Butleer, K.M.; Garber, K.; Escayg, A.; Tossing, G.; Parker, J.A.; Mulroe, F.; Simmons, C.; Baines, R.A.; Schreiber, A.; Alsadah, A.; Neeilson, D.E.; Aleck, K.A.; Fazenbaker, A.C.; Naess, K.; Wedell, A.; Wredenberg, A.; Sorlin, A.; Mccann, E.; Burghel, G.J.; Menendez, B.; Hoganson, G.E.; Botto, L.D.; Filloux, F.M.; Aledo-Serrano, Á.; Gil-Nagel, A.; Tatton-Brown, K.; Verbeek, N.E.; Van Der Zwaag, B.; Balciuniene, J.; Dubbs, H.A.; Marsh, E.D.; Ek, J.; Duno, M.; Hoei-Hansen, C.E.; Deardorff, M.A.; Raca, G.; Van Hirtum-Das, M.; Quindipan, C.; Breckpot, J.; Hammer, T.B.; Møller, R.S.; Whitney, A.; Douglas, A.G.L.; Kharbanda, M.; Brunetti-Pierri, N.; Morleo, M.; Nigro, V.; May, H.J.; Tao, J.X.; Argilli, E.; Sherr, E.H.; Dobyns, W.B.; Warwicker, J.; Banka, S.; Campeau, P.M.
In: Brain . (Brain, 1 April 2023, 146(4):1357-1372)
Academic Journal
Wang, L.; Vong, K.L.; Barrows, C.; Ha, Y.-J.; Lee, S.; Jhamb, I.; Sievert, D.; Mittal, S.; Dale, A.; Gleeson, J.G.; Heffner, C.; Murray, S.A.; Lara-Gonzalez, P.; Van Der Meer, D.; Parker, N.; Andreassen, O.A.; Loughnan, R.; Issa, M.Y.; Zaki, M.S.; Dobyns, W.B.
In: Proceedings of the National Academy of Sciences of the United States of America . (Proceedings of the National Academy of Sciences of the United States of America, 24 January 2023, 120(4))
Academic Journal
Khalaf-Nazzal, R.; Fasham, J.; Leslie, J.S.; Wakeling, M.N.; Ubeyratna, N.; Turnpenny, P.D.; Crosby, A.H.; Baple, E.L.; Inskeep, K.A.; Stottmann, R.W.; Blizzard, L.E.; Pena, L.; Spaeth, C.G.; Mitani, T.; Pehlivan, D.; Akdemir, Z.C.; Posey, J.E.; Lupski, J.R.; Griffith, J.L.; Baker, W.; Al-Hijawi, F.; Keough, K.C.; Gezdirici, A.; Walsh, J.R.; Ray, R.; Neilson, A.; Kouranova, E.; Cui, X.; Curiel, D.T.; Dobyns, W.B.
In: American Journal of Human Genetics . (American Journal of Human Genetics, 3 November 2022, 109(11):2068-2079)
Academic Journal
Whitehead, M.T.; Alves, C.A.; Andronikou, S.; Taranath, A.; Barkovich, A.J.; Dobyns, W.B.; Barkovich, M.J.; Sidpra, J.; Mankad, K.; Sudhakar, S.; Mirsky, D.M.; Öztekin, Ö.; Bhattacharya, D.; Lucato, L.T.; Haldipur, P.; Prabhu, S.P.; Aldinger, K.A.; Millen, K.J.; Boltshauser, E.
In: American Journal of Neuroradiology . (American Journal of Neuroradiology, 1 October 2022, 43(10):1488-1493)
Academic Journal
Holtz, A.M.; VanCoillie, R.; Vansickle, E.A.; Bupp, C.; Carere, D.A.; Withrow, K.; Torti, E.; Juusola, J.; Millan, F.; Person, R.; Guillen Sacoto, M.J.; Si, Y.; Wentzensen, I.M.; Pugh, J.; Vasileiou, G.; Rieger, M.; Reis, A.; Argilli, E.; Sherr, E.H.; Aldinger, K.A.; Dobyns, W.B.; Brunet, T.; Hoefele, J.; Wagner, M.; Haber, B.; Kotzaeridou, U.; Keren, B.; Heron, D.; Mignot, C.; Heide, S.; Courtin, T.; Buratti, J.; Murugasen, S.; Donald, K.A.; O'Heir, E.; Moody, S.; Kim, K.H.; Burton, B.K.; Yoon, G.; Campo, M.D.; Masser-Frye, D.; Kozenko, M.; Parkinson, C.; Sell, S.L.; Gordon, P.L.; Prokop, J.W.; Karaa, A.; Raby, B.A.
In: Genetics in Medicine . (Genetics in Medicine, October 2022, 24(10):2065-2078)
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[AR] Dobyns, W.B.
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