학술논문
'학술논문'
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1~10
Academic Journal
Sheppard, S.E.; Bryant, L.; Vaccaro, C.; Smiler, J.; Da Silva, R.P.; Li, D.; March, M.; Diaz-Rosado, A.; de Barcelos, I.P.; Bhoj, E.J.; Wickramasekara, R.N.; Robertson, B.; Hallgren, J.; Hulen, J.; Watson, C.J.; Stessman, H.A.F.; Faundes, V.; Banka, S.; Duffourd, Y.; Denommé-Pichon, A.-S.; Mau-Them, F.T.; Philippe, C.; Vitobello, A.; Lee, P.; Celeste Simon, M.; de la Cruz, X.; Padilla, N.; Flores-Mendez, M.; Akizu, N.; Choa, Z.X.; Lim, C.Y.; Dubourg, C.; Journel, H.; Demurger, F.; Mulhern, M.; Akman, C.; Lippa, N.; Andrews, M.; Baldridge, D.; Constantino, J.; van Haeringen, A.; Snoeck-Streef, I.; Chow, P.; Hing, A.; Graham, J.M.; Au, M.; Faivre, L.; Shen, W.; Mao, R.; Palumbos, J.; Viskochil, D.; Gahl, W.; Tifft, C.; Macnamara, E.; Hauser, N.; Miller, R.; Maffeo, J.; Afenjar, A.; Doummar, D.; Keren, B.; Arn, P.; Macklin-Mantia, S.; Meerschaut, I.; Callewaert, B.; Reis, A.; Zweier, C.; Brewer, C.; Saggar, A.; Smeland, M.F.; Kumar, A.; Elmslie, F.; Deshpande, C.; Nizon, M.; Cogne, B.; van Ierland, Y.; Wilke, M.; van Slegtenhorst, M.; Koudijs, S.; Chen, J.Y.; Pier, D.; Dredge, D.; Wortmann, S.; Kamsteeg, E.-J.; Koch, J.; Haynes, D.; Pollack, L.; Titheradge, H.; Islam, L.; Ranguin, K.; Weber, S.; de la Fuente, R.P.; del Pozo, J.S.; Rosales, J.M.L.; Joset, P.; Steindl, K.; Rauch, A.; Mei, D.; Mari, F.; Guerrini, R.; Lespinasse, J.; Dauriat, B.; Raymond, L.; Moutton, S.; Cueto-González, A.M.; Tan, T.Y.; Mignot, C.; Grotto, S.; Renaldo, F.; Drivas, T.G.; Hennessy, L.; Raper, A.; Parenti, I.; Kaiser, F.J.; Kuechler, A.; Busk, Ø.L.; Siedlik, J.A.; Henderson, L.B.; Juusola, J.; Person, R.; Schnur, R.E.
In: Science Advances . (Science Advances, March 2023, 9(10))
Academic Journal
Knapp, K.M.; Sullivan, R.; Gimenez, G.; Bicknell, L.S.; Murray, J.; Jackson, A.P.; Arn, P.; D'Souza, P.; Gezdirici, A.; Wilson, W.G.; Ferreira, C.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 March 2020, 57(3):195-202)
Academic Journal
Kishnani, P.S.; Austin, S.L.; Bali, D.S.; Pendyal, S.; Goldstein, J.; Arn, P.; Bachrach, B.; Chung, W.K.; El-Gharbawy, A.; Brown, L.M.; Kahler, S.; Ross, K.M.; Tsilianidis, L.; Weinstein, D.A.; Watson, M.S.
In: Genetics in Medicine . (Genetics in Medicine, 1 April 2019, 21(4):772-789)
Academic Journal
Cook, K.J.; Seligson, N.D.; Arn, P.; Blake, K.V.; Duong, B.Q.; Funanage, V.L.; Gripp, K.W.; Kirwin, S.M.; Lawless, S.T.; Lee, M.M.; Robbins, K.M.; West, D.
In: Clinical Pharmacology and Therapeutics . (Clinical Pharmacology and Therapeutics, September 2021, 110(3):555-558)
Academic Journal
In: Annals of Otology, Rhinology and Laryngology . (Annals of Otology, Rhinology and Laryngology, 1 March 2015, 124(3):198-205)
Academic Journal
Kishnani, P.S.; Austin, S.L.; Bali, D.S.; Boney, A.; Koeberl, D.; Burns Wechsler, S.; Abdenur, J.E.; Arn, P.; Chung, W.K.; Dagli, A.I.; Weinstein, D.A.; Dale, D.; Somers, M.J.; Wolfsdorf, J.I.; Watson, M.S.
In: Genetics in Medicine . (Genetics in Medicine, 13 November 2014, 16(11):1-29)
Academic Journal
In: Genetics in Medicine . (Genetics in Medicine, October 2014, 16(10):759-765)
Academic Journal
Simaite, D.; Gong, M.; Raile, K.; Rüschendorf, F.; Hübner, N.; Kofent, J.; Spagnoli, F.M.; Jia, S.; Arn, P.; Bentler, K.; Ellaway, C.; Kühnen, P.; Hoffmann, G.F.; Blau, N.
In: Diabetes . (Diabetes, 1 October 2014, 63(10):3557-3564)
Book
In: Cerebral Palsy: Second Edition . (Cerebral Palsy: Second Edition, 1 January 2020, :37-44)
Academic Journal
D'Aco, K.; Kaplan, P.; Underhill, L.; Rangachari, L.; Cox, G.F.; Arn, P.; Giugliani, R.; Okuyama, T.; Wijburg, F.
In: European Journal of Pediatrics . (European Journal of Pediatrics, June 2012, 171(6):911-919)
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[AR] Arn, P.
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