학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 49건 | 목록 1~10
Academic Journal
In: Molecular Genetics and Metabolism Reports. (Molecular Genetics and Metabolism Reports, December 2023, 37)
Academic Journal
Niggl, E.Bouman, A.Wallaard, I.Wilke, M.Harris-Mostert, E.D.R.O.Elgersma, M.Elgersma, Y.van Esbroeck, A.C.M.Briere, L.C.Sweetser, D.A.Hoogenboezem, R.M.Park, J.Admard, J.Bertrand, M.Haack, T.B.Witt, D.Bain, J.Balasubramanian, M.Woods, E.Banka, S.Clayton-Smith, J.Ellingford, J.M.Benke, P.J.Blesson, A.E.Jain, M.Gillentine, M.A.Goodloe, D.H.Robin, N.H.Krantz, I.Raible, S.E.Luu, S.M.McPheron, M.Vetrini, F.Muss, C.L.Spiller, M.Starling, S.Thiffault, I.Zhou, D.Ambrose, J.C.Arumugam, P.Bevers, R.Bleda, M.Boardman-Pretty, F.Boustred, C.R.Brittain, H.Brown, M.A.Caulfield, M.J.Chan, G.C.Giess, A.Griffin, J.N.Hamblin, A.Henderson, S.Hubbard, T.J.P.Jackson, R.Jones, L.J.Kasperaviciute, D.Kayikci, M.Kousathanas, A.Lahnstein, L.Lakey, A.Leigh, S.E.A.Leong, I.U.S.Lopez, F.J.Maleady-Crowe, F.McEntagart, M.Minneci, F.Mitchell, J.Moutsianas, L.Mueller, M.Murugaesu, N.Need, A.C.O‘Donovan, P.Odhams, C.A.Patch, C.Perez-Gil, D.Pereira, M.B.Pullinger, J.Rahim, T.Rendon, A.Rogers, T.Savage, K.Sawant, K.Scott, R.H.Siddiq, A.Sieghart, A.Smith, S.C.Sosinsky, A.Stuckey, A.Tanguy, M.Taylor Tavares, A.L.Thomas, E.R.A.Thompson, S.R.Tucci, A.Welland, M.J.Williams, E.Witkowska, K.Wood, S.M.Zarowiecki, M.Acosta, M.T.Adams, D.R.Alvarez, R.L.Alvey, J.Allworth, A.Andrews, A.Ashley, E.A.Afzali, B.Bacino, C.A.Bademci, G.Balasubramanyam, A.Baldridge, D.Bale, J.Bamshad, M.Barbouth, D.Bayrak-Toydemir, P.Beck, A.Beggs, A.H.Behrens, E.Bejerano, G.Bellen, H.J.Bennet, J.Bernstein, J.A.Berry, G.T.Bican, A.Bivona, S.Blue, E.Bohnsack, J.Bonner, D.Botto, L.Brown, G.Burke, E.A.Burrage, L.C.Butte, M.J.Byers, P.Byrd, W.E.Carey, J.Carrasquillo, O.Cassini, T.Chang, T.C.Chanprasert, S.Chao, H.-T.Chinn, I.Clark, G.D.Coakley, T.R.Cobban, L.A.Cogan, J.D.Coggins, M.Cole, F.S.Colley, H.A.Cope, H.Corona, R.Craigen, W.J.Crouse, A.B.Cunningham, M.D'Souza, P.Dai, H.Dasari, S.Davis, J.Dayal, J.G.Delgado, M.Dell'Angelica, E.C.Dipple, K.Doherty, D.Dorrani, N.Doss, A.L.Douine, E.D.Earl, D.Eckstein, D.J.Emrick, L.T.Eng, C.M.Falk, M.Fieg, E.L.Fisher, P.G.Fogel, B.L.Forghani, I.Fu, J.Gahl, W.A.Glass, I.Goddard, P.C.Godfrey, R.A.Grajewski, A.Halley, M.C.Hamid, R.Hanchard, N.Hassey, K.Hayes, N.High, F.Hing, A.Hisama, F.M.Holm, I.A.Hom, J.Horike-Pyne, M.Huang, A.Huang, Y.Hutchison, S.Introne, W.Isasi, R.Izumi, K.Jarvik, G.P.Jarvik, J.Jayadev, S.Jean-Marie, O.Jobanputra, V.Kaitryn, E.Ketkar, S.Kiley, D.Kilich, G.Kobren, S.N.Kohane, I.S.Kohler, J.N.Korrick, S.Krakow, D.Krasnewich, D.M.Kravets, E.Lalani, S.R.Lam, B.Lam, C.Lanpher, B.C.Lanza, I.R.LeBlanc, K.Lee, B.H.Levitt, R.Lewis, R.A.Liu, P.Liu, X.Z.Longo, N.Loo, S.K.Loscalzo, J.Maas, R.L.Macnamara, E.F.MacRae, C.A.Maduro, V.V.Maghiro, A.Mahoney, R.Malicdan, M.C.Mamounas, L.A.Manolio, T.A.Mao, R.Marom, R.Marth, G.Martin, B.A.Martin, M.G.Martínez-Agosto, J.A.Marwaha, S.McCauley, J.McConkie-Rosell, A.McCray, A.T.McGee, E.Might, M.Miller, D.Mirzaa, G.Morava, E.Moretti, P.Morimoto, M.Mulvihill, J.J.Nakano-Okuno, M.Nelson, S.F.Nieves-Rodriguez, S.Novacic, D.Oglesbee, D.Orengo, J.P.Pace, L.Pak, S.Pallais, J.C.Papp, J.C.Parker, N.H.Petcharet, L.Phillips, J.A.Posey, J.E.Potocki, L.Swerdzewski, B.N.Quinlan, A.Rao, D.A.Raper, A.Raskind, W.Renteria, G.Reuter, C.Rives, L.Robertson, A.K.Rodan, L.H.Rosenfeld, J.A.Rosenthal, E.Rossignol, F.Ruzhnikov, M.Sabaii, M.Sacco, R.Sampson, J.B.Saporta, M.Schaechter, J.Schedl, T.Schoch, K.Scott, D.A.Seto, E.Sharma, P.Shashi, V.Shelkowitz, E.Sheppeard, S.Shin, J.Silverman, E.Sinsheimer, J.Sisco, K.Smith, E.Smith, K.Solnica-Krezel, L.Solomon, B.Spillmann, R.Stergachis, A.Stoler, J.Sullivan, K.Sullivan, J.Sutton, S.Sybert, V.Tabor, H.K.Tan, Q.K.-G.Tan, A.L.Tarakad, A.Tekin, M.Telischi, F.Thorson, W.Tifft, C.Toro, C.Tran, A.A.Ungar, R.A.Urv, T.K.Vanderver, A.Velinder, M.Viskochil, D.Vogel, T.P.Wahl, C.E.Walker, M.Walley, N.M.Wambach, J.Wan, J.Wang, L.-K.Wangler, M.F.Ward, P.A.Wegner, D.Weisz, M.Wener, M.Wenger, T.Westerfield, M.Wheeler, M.T.Whitlock, J.Wolfe, L.A.Yamamoto, S.Zhang, Z.Zuchner, S.
In: American Journal of Human Genetics. (American Journal of Human Genetics, 3 August 2023, 110(8):1414-1435)
Academic Journal
Andrews, J.C.Mok, J.-W.Kanca, O.Jangam, S.Bellen, H.J.Wangler, M.F.Yamamoto, S.Tifft, C.Macnamara, E.F.Malicdan, M.C.V.Russell, B.E.Wang, L.-K.Nelson, S.F.Acosta, M.T.Adam, M.Adams, D.R.Alvarez, R.L.Alvey, J.Amendola, L.Andrews, A.Ashley, E.A.Bacino, C.A.Bademci, G.Balasubramanyam, A.Baldridge, D.Bale, J.Bamshad, M.Barbouth, D.Bayrak-Toydemir, P.Beck, A.Beggs, A.H.Behrens, E.Bejerano, G.Bennett, J.Berg-Rood, B.Bernstein, J.A.Berry, G.T.Bican, A.Bivona, S.Blue, E.Bohnsack, J.Bonner, D.Botto, L.Boyd, B.Briere, L.C.Brokamp, E.Brown, G.Burke, E.A.Burrage, L.C.Butte, M.J.Byers, P.Byrd, W.E.Carey, J.Carrasquillo, O.Cassini, T.Peter Chang, T.C.Chanprasert, S.Chao, H.-T.Clark, G.D.Coakley, T.R.Cobban, L.A.Cogan, J.D.Coggins, M.Cole, F.S.Colley, H.A.Cooper, C.M.Cope, H.Corona, R.Craigen, W.J.Crouse, A.B.Cunningham, M.D'Souza, P.Dai, H.Dasari, S.Davis, J.Dayal, J.G.Dell'Angelica, E.C.Dipple, K.Doherty, D.Dorrani, N.Doss, A.L.Douine, E.D.Duncan, L.Earl, D.Eckstein, D.J.Emrick, L.T.Eng, C.M.Falk, M.Fieg, E.L.Fisher, P.G.Fogel, B.L.Forghani, I.Gahl, W.A.Glass, I.Gochuico, B.Goddard, P.C.Godfrey, R.A.Golden-Grant, K.Grajewski, A.Hadley, D.Hahn, S.Halley, M.C.Hamid, R.Hassey, K.Hayes, N.High, F.Hing, A.Hisama, F.M.Holm, I.A.Hom, J.Horike-Pyne, M.Huang, A.Hutchison, S.Introne, W.Isasi, R.Izumi, K.Jamal, F.Jarvik, G.P.Jarvik, J.Jayadev, S.Jean-Marie, O.Jobanputra, V.Karaviti, L.Kennedy, J.Ketkar, S.Kiley, D.Kilich, G.Kobren, S.N.Kohane, I.S.Kohler, J.N.Korrick, S.Kozuira, M.Krakow, D.Krasnewich, D.M.Kravets, E.Lalani, S.R.Lam, B.Lam, C.Lanpher, B.C.Lanza, I.R.LeBlanc, K.Lee, B.H.Levitt, R.Lewis, R.A.Liu, P.Liu, X.Z.Longo, N.Loo, S.K.Loscalzo, J.Maas, R.L.MacRae, C.A.Maduro, V.V.Maghiro, A.Mahoney, R.Mamounas, L.A.Manolio, T.A.Mao, R.Maravilla, K.Marom, R.Marth, G.Martin, B.A.Martin, M.G.Martínez-Agosto, J.A.Marwaha, S.McCauley, J.McConkie-Rosell, A.McCray, A.T.McGee, E.Mefford, H.Merritt, J.L.Might, M.Mirzaa, G.Morava, E.Moretti, P.Mulvihill, J.Nakano-Okuno, M.Newman, J.H.Nicholas, S.K.Nickerson, D.Nieves-Rodriguez, S.Novacic, D.Oglesbee, D.Orengo, J.P.Pace, L.Pak, S.Pallais, J.C.Palmer, C.G.S.Papp, J.C.Parker, N.H.Phillips, J.A.Posey, J.E.Potocki, L.Pusey Swerdzewski, B.N.Quinlan, A.Rao, D.A.Raper, A.Raskind, W.Renteria, G.Reuter, C.M.Rives, L.Robertson, A.K.Rodan, L.H.Rosenfeld, J.A.Rosenwasser, N.Rossignol, F.Ruzhnikov, M.Sacco, R.Sampson, J.B.Saporta, M.Schaechter, J.Schedl, T.Schoch, K.Scott, D.A.Scott, C.R.Shashi, V.Shin, J.Silverman, E.K.Sinsheimer, J.S.Sisco, K.Smith, E.C.Smith, K.S.Solem, E.Solnica-Krezel, L.Solomon, B.Spillmann, R.C.Stoler, J.M.Sullivan, K.Sullivan, J.A.Sun, A.Sutton, S.Sweetser, D.A.Sybert, V.Tabor, H.K.Tan, Q.K.-G.Tan, A.L.M.Tekin, M.Telischi, F.Thorson, W.Tifft, C.J.Toro, C.Tran, A.A.Ungar, R.A.Urv, T.K.Vanderver, A.Velinder, M.Viskochil, D.Vogel, T.P.Wahl, C.E.Walker, M.Wallace, S.Walley, N.M.Wambach, J.Wan, J.Ward, P.A.Wegner, D.Hubshman, M.W.Wener, M.Wenger, T.Westerfield, M.Wheeler, M.T.Whitlock, J.Wolfe, L.A.Worley, K.Xiao, C.Yang, J.Zhang, Z.Zuchner, S.
In: Genetics in Medicine. (Genetics in Medicine, June 2023, 25(6))
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
In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, March 2023, 191(3):711-717)
Academic Journal
Schoch, K.Spillmann, R.Cope, H.McConkie-Rosell, A.Walley, N.Shashi, V.Esteves, C.McCray, A.T.Bican, A.Newman, J.Cogan, J.Fernandez, L.Kohler, J.N.Bonner, D.Reuter, C.Hom, J.Sampson, J.Wheeler, M.T.Bernstein, J.A.Stong, N.Goldstein, D.B.Mulvihill, J.J.Novacic, D.Wolfe, L.Abdelbaki, A.Toro, C.Tifft, C.Malicdan, M.Gahl, W.Adams, D.R.Liu, P.Alejandro, M.E.Azamian, M.S.Bacino, C.A.Balasubramanyam, A.Burrage, L.C.Chao, H.-T.Clark, G.D.Craigen, W.J.Dai, H.Dhar, S.U.Emrick, L.T.Goldman, A.M.Hanchard, N.A.Jamal, F.Karaviti, L.Lalani, S.R.Lee, B.H.Lewis, R.A.Marom, R.Moretti, P.M.Murdock, D.R.Nicholas, S.K.Orengo, J.P.Posey, J.E.Potocki, L.Rosenfeld, J.A.Samson, S.L.Scott, D.A.Tran, A.A.Vogel, T.P.Wangler, M.F.Yamamoto, S.Eng, C.M.Liu, P.Ward, P.A.Behrens, E.Deardorff, M.Falk, M.Hassey, K.Sullivan, K.Vanderver, A.Goldstein, D.B.Cope, H.McConkie-Rosell, A.Schoch, K.Shashi, V.Smith, E.C.Spillmann, R.C.Sullivan, J.A.Tan, Q.K.-G.Walley, N.M.Agrawal, P.B.Beggs, A.H.Berry, G.T.Briere, L.C.Cobban, L.A.Coggins, M.Cooper, C.M.Fieg, E.L.High, F.Holm, I.A.Korrick, S.Krier, J.B.Lincoln, S.A.Loscalzo, J.Maas, R.L.MacRae, C.A.Pallais, J.C.Rao, D.A.Rodan, L.H.Silverman, E.K.Stoler, J.M.Sweetser, D.A.Walker, M.Walsh, C.A.Esteves, C.Kelley, E.G.Kohane, I.S.LeBlanc, K.McCray, A.T.Nagy, A.Dasari, S.Lanpher, B.C.Lanza, I.R.Morava, E.Oglesbee, D.Bademci, G.Barbouth, D.Bivona, S.Carrasquillo, O.Chang, T.C.P.Forghani, I.Grajewski, A.Isasi, R.Lam, B.Levitt, R.Liu, X.Z.McCauley, J.Sacco, R.Saporta, M.Schaechter, J.Tekin, M.Telischi, F.Thorson, W.Zuchner, S.Colley, H.A.Dayal, J.G.Eckstein, D.J.Findley, L.C.Krasnewich, D.M.Mamounas, L.A.Manolio, T.A.Mulvihill, J.J.LaMoure, G.L.Goldrich, M.P.Urv, T.K.Doss, A.L.Acosta, M.T.Bonnenmann, C.D’Souza, P.Draper, D.D.Ferreira, C.Godfrey, R.A.Groden, C.A.Macnamara, E.F.Maduro, V.V.Markello, T.C.Nath, A.Novacic, D.Pusey, B.N.Toro, C.Wahl, C.E.Baker, E.Burke, E.A.Adams, D.R.Gahl, W.A.Malicdan, M.C.V.Tifft, C.J.Wolfe, L.A.Yang, J.Power, B.Gochuico, B.Huryn, L.Latham, L.Davis, J.Mosbrook-Davis, D.Rossignol, F.Solomon, B.MacDowall, J.Thurm, A.Zein, W.Yousef, M.Adam, M.Amendola, L.Bamshad, M.Beck, A.Bennett, J.Berg-Rood, B.Blue, E.Boyd, B.Byers, P.Chanprasert, S.Cunningham, M.Dipple, K.Doherty, D.Earl, D.Glass, I.Golden-Grant, K.Hahn, S.Hing, A.Hisama, F.M.Horike-Pyne, M.Jarvik, G.P.Jarvik, J.Jayadev, S.Lam, C.Maravilla, K.Mefford, H.Merritt, J.L.Mirzaa, G.Nickerson, D.Raskind, W.Rosenwasser, N.Scott, C.R.Sun, A.Sybert, V.Wallace, S.Wener, M.Wenger, T.Ashley, E.A.Bejerano, G.Bernstein, J.A.Bonner, D.Coakley, T.R.Fernandez, L.Fisher, P.G.Fresard, L.Hom, J.Huang, Y.Kohler, J.N.Kravets, E.Majcherska, M.M.Martin, B.A.Marwaha, S.McCormack, C.E.Raja, A.N.Reuter, C.M.Ruzhnikov, M.Sampson, J.B.Smith, K.S.Sutton, S.Tabor, H.K.Tucker, B.M.Zastrow, D.B.Zhao, C.Byrd, W.E.Crouse, A.B.Might, M.Nakano-Okuno, M.Whitlock, J.Brown, G.Butte, M.J.Dell’Angelica, E.C.Dorrani, N.Douine, E.D.Fogel, B.L.Gutierrez, I.Huang, A.Krakow, D.Lee, H.Loo, S.K.Mak, B.C.Martin, M.G.Martínez-Agosto, J.A.McGee, E.Nelson, S.F.Nieves-Rodriguez, S.Palmer, C.G.S.Papp, J.C.Parker, N.H.Renteria, G.Signer, R.H.Sinsheimer, J.S.Wan, J.Wang, L.-K.Perry, K.W.Woods, J.D.Alvey, J.Andrews, A.Bale, J.Bohnsack, J.Botto, L.Carey, J.Pace, L.Longo, N.Marth, G.Quinlan, A.Velinder, M.Viskochil, D.Bayrak-Toydemir, P.Mao, R.Westerfield, M.Bican, A.Brokamp, E.Duncan, L.Hamid, R.Kennedy, J.Kozuira, M.Newman, J.H.Phillips, J.A.Rives, L.Robertson, A.K.Solem, E.Cogan, J.D.Cole, F.S.Hayes, N.Kiley, D.Sisco, K.Wambach, J.Wegner, D.Baldridge, D.Pak, S.Schedl, T.Shin, J.Solnica-Krezel, L.
In: Genetics in Medicine. (Genetics in Medicine, February 2021, 23(2):259-271)
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