학술논문


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'학술논문' 에서 검색결과 11건 | 목록 1~20
Academic Journal
Dore, R.Houlden, H.Maroofian, R.Chang, C.-T.Brunori, G.Ludlam, W.G.Martemyanov, K.A.Declève, A.Ny, A.Copmans, D.Huang, A.Nelson, S.F.Movahedinia, M.Damseh, N.S.Anwar, I.Frederiksen, H.Oreshkov, S.Ansar, M.Vahidi Mehrjardi, M.Y.Khorrami, M.Kheirollahi, M.Eghbal, F.Karimiani, E.G.Mirjalili, M.R.Dehghani, M.Alves, C.Striano, P.Suri, M.Martinez-Agosto, J.Ansar, M.Zahid, M.Akram, S.Antonarakis, S.E.Quinlan, A.Vanderver, A.Rebelo, A.Allworth, A.Beggs, A.H.Huang, A.Paul, A.Al-Beshri, A.Ward, A.McConkie-Rosell, A.Tran, A.A.Gropman, A.Vargas, A.Crouse, A.B.Stergachis, A.Beck, A.Hurst, A.Raper, A.Hing, A.Tarakad, A.Andrews, A.McMinn, A.Balasubramanyam, A.Maghiro, A.C.Pusey Swerdzewski, B.N.Afzali, B.Solomon, B.Martin, B.A.Mitchell, B.Lanpher, B.C.Lee, B.H.Fogel, B.L.Graham, B.H.Corner, B.Korf, B.MacRae, C.A.Toro, C.Skraban, C.Bacino, C.A.Smith, C.A.Esteves, C.Xiao, C.Reuter, C.M.Lam, C.Eng, C.M.Henchcliffe, C.Wahl, C.E.Welt, C.K.Tifft, C.J.Kiley, D.Doherty, D.Rader, D.J.Wegner, D.Miller, D.Scott, D.A.Viskochil, D.Sweetser, D.A.Adams, D.R.Earl, D.Barbouth, D.Rao, D.A.Oglesbee, D.Bonner, D.Novacic, D.Baldridge, D.Behrens, E.Silverman, E.K.Seto, E.Kravets, E.Burke, E.A.Blue, E.Fieg, E.L.Rosenthal, E.Macnamara, E.F.Balton, E.Glanton, E.Shelkowitz, E.Allenspach, E.Klee, E.Vilain, E.Baldwin, E.Conboy, E.Baldwin, E.E.McRoy, E.Dell'Angelica, E.C.Ashley, E.A.Cole, F.S.Pinto e Vairo, F.High, F.Vetrini, F.Rossignol, F.Hisama, F.M.Marth, G.Jarvik, G.P.Clark, G.D.Carvalho, G.Berry, G.T.Mirzaa, G.Bejerano, G.Sirugo, G.Kilich, G.Bademci, G.Wood, H.Taylor, H.Tabor, H.K.Dai, H.Chao, H.-T.Bellen, H.J.Glass, I.Lanza, I.R.Holm, I.A.Kohane, I.S.Chinn, I.Pallais, J.C.Sampson, J.B.Orengo, J.P.Hom, J.Kohler, J.N.Posey, J.E.Wambach, J.Douglas, J.Fu, J.Rosenfeld, J.A.Shin, J.Bennett, J.Stoler, J.M.Gonzalez, J.M.Phillips, J.A.Carey, J.Mulvihill, J.J.Davis, J.Bernstein, J.A.Whitlock, J.Abdenur, J.Loscalzo, J.Cogan, J.D.Martínez-Agosto, J.A.Alvey, J.Darr, K.Callaway, K.Leppig, K.A.Sullivan, K.Sisco, K.Singh, K.Dipple, K.Treat, K.M.Hassey, K.Schoch, K.Smith, K.S.Liaqat, K.Worley, K.Ezell, K.LeBlanc, K.Latchman, K.Rodan, L.H.Pace, L.Cobban, L.A.Briere, L.C.Petcharet, L.Peart, L.S.Mantcheva, L.Solnica-Krezel, L.Burrage, L.C.Mulvihill, L.Schimmenti, L.Emrick, L.T.Botto, L.Potocki, L.Rives, L.Wolfe, L.A.Butte, M.J.Delgado, M.Acosta, M.T.Morimoto, M.Nakano-Okuno, M.Wener, M.Sabaii, M.Horike-Pyne, M.Martin, M.G.Rodriguez, M.Velinder, M.Coggins, M.Might, M.Wheeler, M.T.Ruzhnikov, M.Malicdan, M.V.Halley, M.C.Walker, M.Bamshad, M.Wangler, M.F.Almalvez, M.Mikati, M.Hubshman, M.W.Westerfield, M.Tekin, M.Dorrani, N.Parker, N.H.Hanchard, N.Borja, N.Longo, N.Walley, N.M.Movsesyan, N.Dargie, N.K.Kanca, O.Jean-Marie, O.Goddard, P.C.Moretti, P.Ward, P.A.Dickson, P.Fisher, P.G.Liu, P.Byers, P.Bayrak-Toydemir, P.D'Souza, P.Tan, Q.Ungar, R.A.Mahoney, R.Rajagopalan, R.Alvarez, R.L.Spillmann, R.C.Ganetzky, R.Overbury, R.Barrick, R.Lewis, R.A.Maas, R.L.Hamid, R.Mao, R.Marom, R.Corona, R.I.Butterfield, R.Sheppeard, S.Attaripour, S.Lalani, S.R.Neumann, S.Ketkar, S.Sunyaev, S.R.Kobren, S.N.Yamamoto, S.Sutton, S.Marwaha, S.Chanprasert, S.Nelson, S.F.Zuchner, S.Bivona, S.Ware, S.M.Pak, S.Boyden, S.Jayadev, S.Dasari, S.Korrick, S.Sandmeyer, S.Mozaffar, T.Skelton, T.Wenger, T.Coakley, T.R.Cassini, T.Nicholas, T.J.Schedl, T.Vogel, T.P.Jobanputra, V.Maduro, V.V.Shashi, V.Sybert, V.Cuddapah, V.Introne, W.Raskind, W.Thorson, W.Gahl, W.A.Byrd, W.E.Craigen, W.J.Huang, Y.Karasozen, Y.
In: Genetics in Medicine. (Genetics in Medicine, September 2025, 27(9))
Academic Journal
Fazal, S.Dohrn, M.F.Raposo, J.Danzi, M.C.Xu, I.R.L.Rebelo, A.Bademci, G.Tekin, M.Zuchner, S.Dashnow, H.Hiatt, L.Quinlan, A.R.Toro, C.Adams, D.R.Usdin, K.Hayward, B.Kobren, S.N.Sunyaev, S.R.Spillmann, R.C.Shashi, V.Quinlan, A.Elkadri, A.Vanderver, A.Rebelo, A.Beggs, A.H.La Spada, A.R.Huang, A.Paul, A.Miller, A.Al-Beshri, A.Ward, A.Bale, A.McConkie-Rosell, A.Tran, A.A.Gropman, A.Vargas, A.Crouse, A.B.Stergachis, A.Hurst, A.Raper, A.Tarakad, A.Andrews, A.McMinn, A.Balasubramanyam, A.Pusey Swerdzewski, B.N.Anguiano, B.Afzali, B.Solomon, B.Martin, B.A.Russell, B.E.Wilk, B.M.Mitchell, B.Lanpher, B.C.Lee, B.H.Fogel, B.L.Bordini, B.Graham, B.H.Corner, B.Tucker, B.Korf, B.MacRae, C.A.Toro, C.Skraban, C.Bacino, C.A.Oladele, C.Hendry, C.Smith, C.A.Esteves, C.Xiao, C.Reuter, C.M.Eng, C.M.Chan, C.-H.Wahl, C.E.Welt, C.K.Tifft, C.J.Kiley, D.Rader, D.J.Wegner, D.Miller, D.Scott, D.A.Viskochil, D.Sweetser, D.A.Adams, D.R.Barbouth, D.Rao, D.A.Oglesbee, D.Bonner, D.Basel, D.Novacic, D.Bustos velasq, F.Baldridge, D.Behrens, E.Silverman, E.K.Seto, E.Kravets, E.Rosenthal, E.Worthey, E.A.Burke, E.A.Blue, E.Chao, E.C.Fieg, E.L.Macnamara, E.F.Balton, E.Glanton, E.Shelkowitz, E.Wang, E.Allenspach, E.Klee, E.Vilain, E.Conboy, E.Baldwin, E.E.McRoy, E.Dell'Angelica, E.C.Ashley, E.A.Cole, F.S.Pinto e Vairo, F.High, F.Vetrini, F.Rossignol, F.Hisama, F.M.Marth, G.Jarvik, G.P.Clark, G.D.Carvalho, G.Berry, G.T.Mirzaa, G.Sirugo, G.Kilich, G.Bademci, G.Mendez, H.R.Wood, H.Taylor, H.Tabor, H.K.Dai, H.Chao, H.-T.Xu, H.Bellen, H.J.Zhang, H.Glass, I.Lanza, I.R.Holm, I.A.Kohane, I.S.Ward, I.Chinn, I.Pallais, J.C.Sampson, J.B.Orengo, J.P.Verbsky, J.Sninsky, J.Hom, J.Schend, J.Kohler, J.N.Posey, J.E.Morgan, J.Schymick, J.Wambach, J.Douglas, J.Fu, J.Rosenfeld, J.A.Shin, J.Stoler, J.M.Gonzalez, J.M.Phillips, J.A.Carey, J.Gorzynski, J.E.Mulvihill, J.J.Davis, J.Bernstein, J.A.Whitlock, J.Abdenur, J.Loscalzo, J.Cogan, J.D.Martínez-Agosto, J.A.McCarrier, J.Alvey, J.Darr, K.Callaway, K.Leppig, K.A.Sullivan, K.Sisco, K.Singh, K.Dipple, K.Treat, K.M.Hassey, K.Schoch, K.Smith, K.S.Liaqat, K.Worley, K.Ezell, K.LeBlanc, K.Latchman, K.Rodan, L.H.Keehan, L.Pace, L.Cobban, L.A.Blieden, L.Briere, L.C.Jeffries, L.Wiel, L.Abi Farraj, L.F.Petcharet, L.Peart, L.S.Mantcheva, L.Solnica-Krezel, L.Burrage, L.C.Mulvihill, L.Schimmenti, L.Emrick, L.T.Botto, L.Potocki, L.Rives, L.Wolfe, L.A.Steenari, M.-R.Butte, M.J.Delgado, M.Romero, M.J.O.Acosta, M.T.Morimoto, M.Nakano-Okuno, M.Gerstein, M.Wener, M.Sabaii, M.Horike-Pyne, M.Martin, M.G.Rodriguez, M.Velinder, M.Coggins, M.Might, M.Wheeler, M.T.Malicdan, M.V.Bell, M.Halley, M.C.Walker, M.Levanto, M.Bamshad, M.Wangler, M.F.Muriello, M.Zimmermann, M.Spencer-Manzon, M.Leitheiser, M.Mikati, M.Saifeddine, M.Weisz Hubshman, M.Lek, M.Westerfield, M.Tekin, M.Derar, N.Dorrani, N.Parker, N.H.Hanchard, N.Borja, N.Longo, N.Walley, N.M.Dargie, N.K.Kaufman, O.Kanca, O.Jean-Marie, O.Goddard, P.C.Moretti, P.Ward, P.A.Dickson, P.Berger, P.Fisher, P.G.Liu, P.Byers, P.Bayrak-Toydemir, P.D'Souza, P.Tan, Q.Ungar, R.A.Li, R.Mahoney, R.Rajagopalan, R.Alvarez, R.L.Spillmann, R.C.Ganetzky, R.Overbury, R.Barrick, R.Lewis, R.A.Maas, R.L.Hamid, R.Mao, R.Marom, R.Corona, R.I.Kumar, R.Butterfield, R.Attaripour, S.Nagamani, S.Emami, S.Lalani, S.R.Neumann, S.Perlman, S.Ketkar, S.Sunyaev, S.R.Kobren, S.N.Yamamoto, S.Mane, S.Marwaha, S.Chanprasert, S.Nelson, S.F.Zuchner, S.Bivona, S.Ware, S.M.Montgomery, S.B.Pak, S.Boyden, S.Bachir, S.Dasari, S.Korrick, S.Sandmeyer, S.Mozaffar, T.Skelton, T.Jensen, T.D.Mamidi, T.K.Beagle, T.Maurer, T.Serrano, T.J.Coakley, T.R.Cassini, T.Nicholas, T.J.Schedl, T.Vogel, T.P.Jobanputra, V.Maduro, V.V.Shashi, V.Vasiliou, V.Sybert, V.Cuddapah, V.Introne, W.Raskind, W.Thorson, W.Gahl, W.A.Byrd, W.E.Craigen, W.J.Halstead, W.Huang, Y.Karasozen, Y.Jiang, Y.-H.
In: Genetics in Medicine. (Genetics in Medicine, August 2025, 27(8))
Academic Journal
Tan, Q.K.G.McConkie-Rosell, A.Spillmann, R.C.Schoch, K.Shashi, V.Mahoney, R.Chanprasert, S.Hisama, F.M.Acosta, M.T.Toro, C.Adams, D.R.Rosenfeld, J.A.Scott, D.A.Orengo, J.P.Granadillo, J.L.Sisco, K.Wegner, D.J.Tekin, M.Bivona, S.Peart, L.Rodan, L.Bonner, D.Wheeler, M.T.Bernstein, J.A.Ruzhnikov, M.Quinlan, A.Vanderver, A.Rebelo, A.Allworth, A.Beggs, A.H.Huang, A.Paul, A.Al-Beshri, A.Ward, A.McConkie-Rosell, A.Tran, A.A.Gropman, A.Crouse, A.B.Stergachis, A.Beck, A.Hurst, A.Raper, A.Hing, A.Tarakad, A.Andrews, A.McMinn, A.Balasubramanyam, A.Maghiro, A.C.Pusey Swerdzewski, B.N.Afzali, B.Solomon, B.Martin, B.A.Mitchell, B.Lanpher, B.C.Lee, B.H.Fogel, B.L.Graham, B.H.Corner, B.Korf, B.MacRae, C.A.Toro, C.Skraban, C.Bacino, C.A.Smith, C.A.Esteves, C.Xiao, C.Reuter, C.M.Lam, C.Eng, C.M.Henchcliffe, C.Wahl, C.E.Welt, C.K.Tifft, C.J.Kiley, D.Doherty, D.Rader, D.J.Wegner, D.Miller, D.Scott, D.A.Sweetser, D.A.Adams, D.R.Earl, D.Barbouth, D.Krakow, D.Rao, D.A.Oglesbee, D.Bonner, D.Novacic, D.Baldridge, D.Behrens, E.Silverman, E.K.Seto, E.Kravets, E.Burke, E.A.Blue, E.Fieg, E.L.Rosenthal, E.Macnamara, E.F.Balton, E.Douine, E.D.Glanton, E.Shelkowitz, E.Allenspach, E.Klee, E.Vilain, E.Baldwin, E.Conboy, E.Baldwin, E.E.McRoy, E.Dell’Angelica, E.C.Ashley, E.A.Cole, F.S.Pinto e Vairo, F.High, F.Vetrini, F.Rossignol, F.Hisama, F.M.Marth, G.Jarvik, G.P.Clark, G.D.Carvalho, G.Berry, G.T.Mirzaa, G.Bejerano, G.Sirugo, G.Kilich, G.Bademci, G.Wood, H.Taylor, H.Tabor, H.K.Dai, H.Chao, H.-T.Bellen, H.J.Glass, I.Lanza, I.R.Holm, I.A.Kohane, I.S.Chinn, I.Pallais, J.C.Sampson, J.B.Orengo, J.P.Hom, J.Kohler, J.N.Posey, J.E.Wambach, J.Douglas, J.Fu, J.Rosenfeld, J.A.Shin, J.Bennett, J.Stoler, J.M.Gonzalez, J.M.Phillips, J.A.Carey, J.Mulvihill, J.J.Davis, J.Bernstein, J.A.Whitlock, J.Abdenur, J.Loscalzo, J.Cogan, J.D.Martínez-Agosto, J.A.Alvey, J.Darr, K.Callaway, K.Leppig, K.A.Sullivan, K.Sisco, K.Singh, K.Dipple, K.Treat, K.M.Hassey, K.Schoch, K.Smith, K.S.Liaqat, K.Worley, K.Ezell, K.LeBlanc, K.Latchman, K.Rodan, L.H.Pace, L.Cobban, L.A.Briere, L.C.Petcharet, L.Peart, L.Mantcheva, L.Solnica-Krezel, L.Burrage, L.C.Mulvihill, L.Schimmenti, L.Emrick, L.T.Botto, L.Potocki, L.Rives, L.Wolfe, L.A.Butte, M.J.Delgado, M.Acosta, M.T.Morimoto, M.Nakano-Okuno, M.Wener, M.Sabaii, M.Horike-Pyne, M.Martin, M.G.Rodriguez, M.Velinder, M.Coggins, M.Might, M.Wheeler, M.T.Ruzhnikov, M.Malicdan, M.V.Halley, M.C.Walker, M.Bamshad, M.Wangler, M.F.Almalvez, M.Mikati, M.Hubshman, M.W.Westerfield, M.Tekin, M.Dorrani, N.Parker, N.H.Hanchard, N.Borja, N.Longo, N.Walley, N.M.Movsesyan, N.Dargie, N.K.Kanca, O.Jean-Marie, O.Goddard, P.C.Moretti, P.Ward, P.A.Dickson, P.Fisher, P.G.Liu, P.Byers, P.Bayrak-Toydemir, P.D’Souza, P.Tan, Q.Ungar, R.A.Mahoney, R.Rajagopalan, R.Alvarez, R.L.Spillmann, R.C.Ganetzky, R.Overbury, R.Barrick, R.Lewis, R.A.Maas, R.L.Hamid, R.Mao, R.Marom, R.Corona, R.I.Butterfield, R.Sheppeard, S.Attaripour, S.Lalani, S.R.Neumann, S.Ketkar, S.Sunyaev, S.R.Kobren, S.N.Yamamoto, S.Sutton, S.Marwaha, S.Chanprasert, S.Nelson, S.F.Zuchner, S.Bivona, S.Ware, S.M.Pak, S.Boyden, S.Jayadev, S.Dasari, S.Korrick, S.Sandmeyer, S.Mozaffar, T.Skelton, T.Wenger, T.Coakley, T.R.Cassini, T.Nicholas, T.J.Schedl, T.Vogel, T.P.Jobanputra, V.Maduro, V.V.Shashi, V.Sybert, V.Cuddapah, V.Introne, W.Raskind, W.Thorson, W.Gahl, W.A.Byrd, W.Craigen, W.J.Huang, Y.Karasozen, Y.
In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, April 2025, 197(4))
Academic Journal
Stewart, R.Ezell, K.M.Corner, B.McMinn, A.Cogan, J.D.Hamid, R.Rives, L.Phillips, J.A.Koziura, M.Cassini, T.Bell, D.S.Paddu, N.Srivastava, G.Marom, R.Ladha, F.A.Soler-Alfonso, C.Franciskovich, R.Pruthi, S.Richard, G.Sheedy, C.B.Quinlan, A.Elkadri, A.Vanderver, A.Rebelo, A.Beggs, A.H.La Spada, A.R.Huang, A.Paul, A.Miller, A.Al-Beshri, A.Ward, A.Bale, A.McConkie-Rosell, A.Tran, A.A.Gropman, A.Vargas, A.Crouse, A.B.Stergachis, A.Hurst, A.Raper, A.Tarakad, A.Andrews, A.McMinn, A.Balasubramanyam, A.Pusey Swerdzewski, B.N.Anguiano, B.Solomon, B.Martin, B.A.Russell, B.E.Wilk, B.M.Mitchell, B.Lanpher, B.C.Lee, B.H.Fogel, B.L.Bordini, B.Graham, B.H.Corner, B.Tucker, B.Korf, B.MacRae, C.A.Toro, C.Skraban, C.Bacino, C.A.Oladele, C.Hendry, C.Smith, C.A.Esteves, C.Xiao, C.Reuter, C.M.Eng, C.M.Chan, C.-H.Wahl, C.E.Welt, C.K.Tifft, C.J.Kiley, D.Rader, D.J.Wegner, D.Miller, D.Scott, D.A.Viskochil, D.Sweetser, D.A.Adams, D.R.Barbouth, D.Rao, D.A.Oglesbee, D.Bonner, D.Basel, D.Novacic, D.Baldridge, D.Behrens, E.Silverman, E.K.Seto, E.Kravets, E.Rosenthal, E.Worthey, E.A.Burke, E.A.Blue, E.Chao, E.C.Fieg, E.L.Macnamara, E.F.Balton, E.Glanton, E.Shelkowitz, E.Wang, E.Allenspach, E.Klee, E.Vilain, E.Conboy, E.Baldwin, E.E.McRoy, E.Dell’Angelica, E.C.Ashley, E.A.Cole, F.S.Pinto, F.High, F.Vetrini, F.Rossignol, F.Bustos, F.Hisama, F.M.Marth, G.Jarvik, G.P.Clark, G.D.Carvalho, G.Berry, G.T.Mirzaa, G.Sirugo, G.Kilich, G.Bademci, G.Mendez, H.R.Wood, H.Taylor, H.Tabor, H.K.Dai, H.Chao, H.-T.Xu, H.Bellen, H.J.Zhang, H.Glass, I.Lanza, I.R.Holm, I.A.Kohane, I.S.Ward, I.Chinn, I.Pallais, J.C.Sampson, J.B.Orengo, J.P.Verbsky, J.Sninsky, J.Hom, J.Schend, J.Kohler, J.N.Posey, J.E.Morgan, J.Schymick, J.Wambach, J.Douglas, J.Fu, J.Rosenfeld, J.A.Shin, J.Stoler, J.M.Gonzalez, J.M.Phillips, J.A.Carey, J.Gorzynski, J.E.Mulvihill, J.J.Davis, J.Bernstein, J.A.Whitlock, J.Abdenur, J.Loscalzo, J.Cogan, J.D.Martínez-Agosto, J.A.McCarrier, J.Alvey, J.Darr, K.Callaway, K.Leppig, K.A.Sullivan, K.Sisco, K.Singh, K.Dipple, K.Treat, K.M.Hassey, K.Schoch, K.Smith, K.S.Liaqat, K.Worley, K.Ezell, K.LeBlanc, K.Latchman, K.Rodan, L.H.Keehan, L.Pace, L.Cobban, L.A.Blieden, L.Briere, L.C.Jeffries, L.Wiel, L.Abi Farraj, L.F.Petcharet, L.Peart, L.Mantcheva, L.Solnica-Krezel, L.Burrage, L.C.Mulvihill, L.Schimmenti, L.Emrick, L.T.Botto, L.Potocki, L.Rives, L.Wolfe, L.A.Steenari, M.-R.Butte, M.J.Delgado, M.Romero, M.J.O.Acosta, M.T.Morimoto, M.Nakano-Okuno, M.Gerstein, M.Wener, M.Sabaii, M.Horike-Pyne, M.Martin, M.G.Rodriguez, M.Velinder, M.Coggins, M.Might, M.Wheeler, M.T.Malicdan, M.V.Bell, M.Halley, M.C.Walker, M.Levanto, M.Bamshad, M.Wangler, M.F.Muriello, M.Zimmermann, M.Spencer-Manzon, M.Leitheiser, M.Mikati, M.Saifeddine, M.Hubshman, M.W.Lek, M.Westerfield, M.Tekin, M.Derar, N.Dorrani, N.Parker, N.H.Hanchard, N.Borja, N.Longo, N.Walley, N.M.Dargie, N.K.Kaufman, O.Kanca, O.Jean-Marie, O.Goddard, P.C.Moretti, P.Ward, P.A.Dickson, P.Berger, P.Fisher, P.G.Liu, P.Byers, P.Bayrak-Toydemir, P.D’Souza, P.Tan, Q.Ungar, R.A.Li, R.Mahoney, R.Rajagopalan, R.Alvarez, R.L.Spillmann, R.C.Ganetzky, R.Overbury, R.Barrick, R.Lewis, R.A.Maas, R.L.Hamid, R.Mao, R.Marom, R.Corona, R.I.Kumar, R.Butterfield, R.Attaripour, S.Nagamani, S.Emami, S.Lalani, S.R.Neumann, S.Perlman, S.Ketkar, S.Sunyaev, S.R.Kobren, S.N.Yamamoto, S.Mane, S.Marwaha, S.Chanprasert, S.Nelson, S.F.Zuchner, S.Bivona, S.Ware, S.M.Montgomery, S.B.Pak, S.Boyden, S.Bachir, S.Dasari, S.Korrick, S.Sandmeyer, S.Mozaffar, T.Skelton, T.Jensen, T.D.Mamidi, T.K.K.Beagle, T.Maurer, T.Serrano, T.J.Coakley, T.R.Cassini, T.Nicholas, T.J.Schedl, T.Vogel, T.P.Jobanputra, V.Maduro, V.V.Shashi, V.Vasiliou, V.Sybert, V.Cuddapah, V.Introne, W.Raskind, W.Thorson, W.Gahl, W.A.Byrd, W.E.Craigen, W.J.Halstead, W.Huang, Y.Karasozen, Y.Jiang, Y.-H.
In: American Journal of Medical Genetics, Part A. (American Journal of Medical Genetics, Part A, 2025)
Academic Journal
Shashi, V.Schoch, K.Ganetzky, R.Muraresku, C.Ganetzky, R.Kranz, P.G.Sondheimer, N.Markert, M.L.Valdez, P.Markert, M.L.Cope, H.Sadeghpour, A.Sadeghpour, A.Roehrs, P.Arbogast, T.Davis, E.E.Tyndall, A.V.Ping-Yee Au, B.Parboosingh, J.S.Lamont, R.E.Bernier, F.P.Innes, A.M.Esser, M.J.Woodward, K.E.Wright, N.A.M.Benseler, S.M.Parsons, S.J.El-Dairi, M.Smith, E.C.Tennison, M.Davis, E.E.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.Bellen, H.J.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.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.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.Dell'Angelica, E.C.Dickson, P.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.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.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.Macnamara, E.F.MacRae, C.A.Maduro, V.V.Maghiro, A.S.Mahoney, R.Malicdan, M.C.V.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.Nelson, S.F.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.Seto, E.Shashi, V.Shin, J.Silverman, E.K.Sinsheimer, J.S.Sisco, K.Smith, E.C.Smith, K.S.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.Tarakad, A.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.Wang, L.-K.Wangler, M.F.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.Yamamoto, S.Yang, J.Zhang, Z.Zuchner, S.
In: Genetics in Medicine. (Genetics in Medicine, September 2023, 25(9))
Academic Journal
Pujol-Giménez, J.Albano, G.Hediger, M.A.Mirzaa, G.Bennett, J.T.Miller, D.E.Doherty, D.Glass, I.Hing, A.Bamshad, M.J.Dipple, K.M.Blue, E.E.Hisama, F.M.Jarvik, G.P.Stergachis, A.B.Allworth, A.Byers, P.H.Chanprasert, S.Folta, A.B.Horike-Pyne, M.Parhin, A.Ranchalis, J.Raskind, W.H.Rosenthal, E.A.Sheppeard, S.Strohbehn, S.Sybert, V.P.Chen, J.Schwarze, U.Wener, M.Timms, A.Gillentine, M.A.Leppig, K.A.Leal, S.M.Nickerson, D.A.Anderson, P.Bacus, T.J.Blue, E.E.Brower, K.Buckingham, K.J.Chong, J.X.Sánchez, D.C.Davis, C.P.Davis, C.J.Frazar, C.D.Gomeztagle-Burgess, K.Gordon, W.W.Horike-Pyne, M.Hurless, J.R.Jarvik, G.P.Johanson, E.Kolar, J.T.Marvin, C.T.McGee, S.McGoldrick, D.J.Mekonnen, B.Nielsen, P.M.Patterson, K.Radhakrishnan, A.Richardson, M.A.Roote, G.T.Ryke, E.L.Schrauwen, I.Shively, K.M.Smith, J.D.Tackett, M.Wang, G.Weiss, J.M.Wheeler, M.M.Yi, Q.Zhang, X.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.Barbouth, D.Bayrak-Toydemir, P.Beck, A.Beggs, A.H.Behrens, E.Bejerano, G.Bellen, H.J.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.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.P.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.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.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.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.Macnamara, E.F.MacRae, C.A.Maduro, V.V.Maghiro, A.Mahoney, R.Malicdan, M.C.V.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.Nelson, S.F.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.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.Wang, L.-K.Wangler, M.F.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.Yamamoto, S.Yang, J.Zhang, Z.Zuchner, S.
In: Annals of Clinical and Translational Neurology. (Annals of Clinical and Translational Neurology, June 2023, 10(6):1046-1053)
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