학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 61건 | 목록 1~10
Academic Journal
Parra, A.Pascual, P.Cazalla, M.Arias, P.Gallego-Zazo, N.Nevado, J.Tenorio-Castano, J.Lapunzina, P.San-Martín, E.A.Silván, C.Santos-Simarro, F.Plasencia, A.Rosa, A.L.Blanquer, A.Garcı'a-Alix, A.Santana, A.Delicado, A.Alonso, A.Rodriguez, A.Sanchis, A.Moreno, A.Gar-cía, A.P.Vega, A.Bredani, A.Solari, A.P.Villavicencio, A.Acosta, A.Nieto, A.González, A.M.C.Baldellón, A.Meneses, A.G.Carrascal, A.-T.M.de Bustamante, A.D.Ocasar, A.Gener, B.González, B.Groisman, B.Coffee, B.Martín, C.A.Fernández, C.A.Benito, C.Seisdedos, C.M.Roche, C.Arberas, C.Perando-nes, C.Contessotto, C.Olivas, C.Armenta, D.Cavalcanti, D.Elorza, D.Zamora, E.Zambrano, E.Steichen, E.Cruz, E.C.Gómez, E.G.Román, E.Goldschmidt, E.Marfil, E.Gean, E.Antolín, E.Jiménez, F.J.G.Ramos, F.Grondona, F.L.Córdoba, F.Vargas, F.R.Martínez, F.Vegada, J.M.G.Uzielli, G.Gacio, G.Armengod, C.G.Mercado, G.Cassinelli, H.Orioli, I.Arroyo, I.López, I.D.Ramírez, I.O.Castroviejo, I.P.Pascual, I.P.Rio, I.V.Bueno, I.Portero, I.E.Sánchez, I.L.del Pozo, J.S.Campistol, J.Arcas, J.Fernández, J.Planells, J.G.Pisón, J.L.Barreiro, J.del Valle Nuñez, J.Liria, M.J.J.Toral, J.F.-N.Ramírez, J.Rosell, J.Vilaplana, J.de Almeida, J.C.C.Labarta, J.I.Herranz, J.L.Luna, J.L.F.Fuster, J.L.Díaz, J.M.Gairi, J.M.Sagredo, J.M.G.Piñero, J.A.Gutiérrez, J.C.L.Fernández, J.M.López Siguero, J.P.Armstrong, J.Lara, J.Arranz, L.Rodríguez, L.Soriano, L.De Alba, L.Cimbalistiene, L.Mar-torell, L.Solana, L.G.G.Jurado, L.P.Ariztegui, M.A.L.Molina, M.A.-T.García, M.C.Lozano, M.F.Merillas, M.J.A.Martínez-Frías, M.L.Martínez Fernández, M.L.Jadraque, M.R.Pérez, M.A.G.Pedreira, M.M.-R.R.Ribate, M.P.López, M.T.G.Pumarega, M.T.M.Segovia, M.Lizama, M.Pombo, M.Martínez, M.Tabernero, M.Ramos, M.A.Ballesta, M.Belar, M.Lautre, M.J.Cruz, M.Guardia, M.N.M.Sarries, F.J.M.Artigas, M.Villanueva, M.Torrabías, M.del Campo, M.Vila, M.T.Urioste, M.Rosello, M.Kantaputra, N.Matos, P.P.Dorao, P.Casano, P.Mallada, P.L.Olivares, P.-D.Delgado, R.P.Bernardi, P.León, R.C.Cañete, R.Gaztañaga, R.Velazquez, R.Samahuja, R.V.Villaverde, R.S.Gracia, R.Scott, R.Valdez, R.Arteaga, R.Cedeño, R.Cazorla, R.Iglesias, R.M.Bronberg, R.Climent, S.Barreiro, S.C.Kapoor, S.Kleppe, S.Santillán, S.Lopez, T.G.Calvo, T.Vendrell, T.Tirado, P.Pacheco, C.T.Huertos, A.U.Lopez, V.Lotersztein, V.Mén-dez, V.Martín, S.V.Seidel, V.Albiach, V.Navas López, V.M.Soler, V.Cosentino, V.
In: Clinical Genetics. (Clinical Genetics, February 2024, 105(2):140-149)
Academic Journal
Denommé-Pichon, A.-S.Bruel, A.-L.Duffourd, Y.Safraou, H.Thauvin-Robinet, C.Tran Mau-Them, F.Philippe, C.Vitobello, A.Denommé-Pichon, A.-S.Bruel, A.-L.Duffourd, Y.Jean-Marçais, N.Moutton, S.Safraou, H.Thauvin-Robinet, C.Thevenon, J.Tran Mau-Them, F.Philippe, C.Vitobello, A.Faivre, L.Matalonga, L.de Boer, E.Gilissen, C.Hoischen, A.Kleefstra, T.Pfundt, R.de Vries, B.B.A.Willemsen, M.H.Vissers, L.E.L.M.de Boer, E.Kleefstra, T.Pfundt, R.de Vries, B.B.A.Willemsen, M.H.Vissers, L.E.L.M.Jackson, A.Banka, S.Clayton-Smith, J.Benetti, E.Fallerini, C.Renieri, A.Ciolfi, A.Dallapiccola, B.Pizzi, S.Radio, F.C.Tartaglia, M.Ellwanger, K.Graessner, H.Haack, T.B.Zurek, B.Ellwanger, K.Graessner, H.Haack, T.B.Zurek, B.Fallerini, C.Renieri, A.Gilissen, C.Hoischen, A.Havlovicova, M.Macek, M.Ryba, L.Schwarz, M.Votypka, P.Hoischen, A.Jean-Marçais, N.Thauvin-Robinet, C.Faivre, L.Kleefstra, T.López-Martín, E.Posada, M.Mencarelli, M.A.Renieri, A.Rooryck, C.Trimouille, A.Verloes, A.Verloes, A.Abbott, K.M.Banka, S.de Boer, E.Ciolfi, A.Clayton-Smith, J.Dallapiccola, B.Denommé-Pichon, A.-S.Faivre, L.Gilissen, C.Haack, T.B.Havlovicova, M.Hoischen, A.Jackson, A.Kerstjens, M.Kleefstra, T.Martín, E.L.Macek, M.Matalonga, L.Maystadt, I.Morleo, M.Nigro, V.Pinelli, M.Pizzi, S.Posada, M.Radio, F.C.Renieri, A.Riess, O.Rooryck, C.Ryba, L.Agathe, J.-M.D.S.Santen, G.W.E.Schwarz, M.Tartaglia, M.Thauvin, C.Torella, A.Trimouille, A.Verloes, A.Vissers, L.Vitobello, A.Votypka, P.Zguro, K.Boer, E.D.Cohen, E.Danis, D.Denommé-Pichon, A.-S.Gao, F.Gilissen, C.Horvath, R.Johari, M.Johanson, L.Li, S.Matalonga, L.Morsy, H.Nelson, I.Paramonov, I.te Paske, I.B.A.W.Robinson, P.Savarese, M.Steyaert, W.Töpf, A.Trimouille, A.van der Velde, J.K.Vandrovcova, J.Vitobello, A.Riess, O.Haack, T.B.Graessner, H.Zurek, B.Ellwanger, K.Ossowski, S.Demidov, G.Sturm, M.Schulze-Hentrich, J.M.Schüle, R.Xu, J.Kessler, C.Wayand, M.Synofzik, M.Wilke, C.Traschütz, A.Schöls, L.Hengel, H.Lerche, H.Kegele, J.Heutink, P.Brunner, H.Scheffer, H.Hoogerbrugge, N.Hoischen, A.‘t Hoen, P.A.C.Vissers, L.E.L.M.Gilissen, C.Steyaert, W.Sablauskas, K.de Voer, R.M.Kamsteeg, E.-J.van de Warrenburg, B.van Os, N.Paske, I.T.Janssen, E.de Boer, E.Steehouwer, M.Yaldiz, B.Kleefstra, T.Brookes, A.J.Veal, C.Gibson, S.Maddi, V.Mehtarizadeh, M.Riaz, U.Warren, G.Dizjikan, F.Y.Shorter, T.Töpf, A.Straub, V.Bettolo, C.M.Manera, J.D.Hambleton, S.Engelhardt, K.Clayton-Smith, J.Banka, S.Alexander, E.Jackson, A.Faivre, L.Thauvin, C.Vitobello, A.Denommé-Pichon, A.-S.Duffourd, Y.Bruel, A.-L.Peyron, C.Pélissier, A.Beltran, S.Gut, I.G.Laurie, S.Piscia, D.Matalonga, L.Papakonstantinou, A.Bullich, G.Corvo, A.Fernandez-Callejo, M.Hernández, C.Picó, D.Paramonov, I.Lochmüller, H.Gumus, G.Bros-Facer, V.Rath, A.Hanauer, M.Lagorce, D.Hongnat, O.Chahdil, M.Lebreton, E.Stevanin, G.Durr, A.Davoine, C.-S.Guillot-Noel, L.Heinzmann, A.Coarelli, G.Bonne, G.Evangelista, T.Allamand, V.Nelson, I.Ben Yaou, R.Metay, C.Eymard, B.Cohen, E.Atalaia, A.Stojkovic, T.Macek, M.Turnovec, M.Thomasová, D.Kremliková, R.P.Franková, V.Havlovicová, M.Lišková, P.Doležalová, P.Parkinson, H.Keane, T.Freeberg, M.Thomas, C.Spalding, D.Robinson, P.Danis, D.Robert, G.Costa, A.Patch, C.Hanna, M.Houlden, H.Reilly, M.Vandrovcova, J.Efthymiou, S.Morsy, H.Cali, E.Magrinelli, F.Sisodiya, S.M.Rohrer, J.Muntoni, F.Zaharieva, I.Sarkozy, A.Timmerman, V.Baets, J.de Vries, G.De Winter, J.Beijer, D.de Jonghe, P.Van de Vondel, L.De Ridder, W.Weckhuysen, S.Mutarelli, M.Morleo, M.Pinelli, M.Varavallo, A.Banfi, S.Torella, A.Musacchia, F.Piluso, G.Ferlini, A.Selvatici, R.Gualandi, F.Bigoni, S.Rossi, R.Neri, M.Aretz, S.Spier, I.Sommer, A.K.Peters, S.Oliveira, C.Pelaez, J.G.Matos, A.R.José, C.S.Ferreira, M.Gullo, I.Fernandes, S.Garrido, L.Ferreira, P.Carneiro, F.Swertz, M.A.Johansson, L.van der Velde, J.K.van der Vries, G.Neerincx, P.B.Ruvolo, D.Abbott, K.M.Kerstjens Frederikse, W.S.Zonneveld-Huijssoon, E.Roelofs-Prins, D.van Gijn, M.Köhler, S.Metcalfe, A.Verloes, A.Drunat, S.Heron, D.Mignot, C.Keren, B.Agathe, J.-M.D.S.Rooryck, C.Lacombe, D.Trimouille, A.Capella, G.Valle, L.Holinski-Feder, E.Laner, A.Steinke-Lange, V.Cilio, M.-R.Carpancea, E.Depondt, C.Lederer, D.Sznajer, Y.Duerinckx, S.Mary, S.Macaya, A.Cazurro-Gutiérrez, A.Pérez-Dueñas, B.Munell, F.Jarava, C.F.Masó, L.B.Marcé-Grau, A.Colobran, R.Hackman, P.Savarese, M.Udd, B.Hemelsoet, D.Dermaut, B.Schuermans, N.Poppe, B.Verdin, H.Osorio, A.N.Depienne, C.Roos, A.Maystadt, I.Cordts, I.Deschauer, M.Striano, P.Zara, F.Riva, A.Iacomino, M.Uva, P.Scala, M.Scudieri, P.Başak, A.N.Claeys, K.Boztug, K.Haimel, M.W.E, G.Ruivenkamp, C.A.L.Natera de Benito, D.Lochmüller, H.Thompson, R.Polavarapu, K.Grimbacher, B.Zaganas, I.Kokosali, E.Lambros, M.Evangeliou, A.Spilioti, M.Kapaki, E.Bourbouli, M.Ciolfi, A.Dallapiccola, B.Pizzi, S.Radio, F.C.Tartaglia, M.Balicza, P.Molnar, M.J.De la Paz, M.P.Sánchez, E.B.Martín, E.L.Delgado, B.M.Alonso García de la Rosa, F.J.Schröck, E.Rump, A.Mei, D.Vetro, A.Balestrini, S.Guerrini, R.Horvath, R.Chinnery, P.F.Ratnaike, T.Gao, F.Schon, K.Maver, A.Peterlin, B.Münchau, A.Lohmann, K.Herzog, R.Pauly, M.May, P.Beeson, D.Cossins, J.Renieri, A.Furini, S.Fallerini, C.Benetti, E.Afenjar, A.Goldenberg, A.Masurel, A.Phan, A.Dieux-Coeslier, A.Fargeot, A.Guerrot, A.-M.Toutain, A.Molin, A.Sorlin, A.Putoux, A.Jouret, B.Laudier, B.Demeer, B.Doray, B.Bonniaud, B.Isidor, B.Gilbert-Dussardier, B.Leheup, B.Reversade, B.Paul, C.Vincent-Delorme, C.Neiva, C.Poirsier, C.Quélin, C.Chiaverini, C.Coubes, C.Francannet, C.Colson, C.Desplantes, C.Wells, C.Goizet, C.Lederer, D.Sanlaville, D.Amram, D.Lehalle, D.Geneviève, D.Heron, D.Lacombe, D.Gaillard, D.Zivi, E.Sarrazin, E.Steichen, E.Schaefer, É.Lacaze, E.Jacquemin, E.Bongers, E.Kilic, E.Colin, E.Giuliano, F.Prieur, F.Laffargue, F.Morice-Picard, F.Petit, F.Cartault, F.Feillet, F.Baujat, G.Morin, G.Diene, G.Journel, H.Maystadt, I.Perthus, I.Lespinasse, J.Alessandri, J.-L.Amiel, J.Martinovic, J.Delanne, J.Albuisson, J.Lambert, L.Perrin, L.Ousager, L.B.Van Maldergem, L.Pinson, L.Ruaud, L.Samimi, M.Bournez, M.Bonnet-Dupeyron, M.N.Vincent, M.Jacquemont, M.-L.Cordier-Alex, M.-P.Gérard-Blanluet, M.Willems, M.Spodenkiewicz, M.Doco-Fenzy, M.Rossi, M.Renaud, M.Fradin, M.Mathieu, M.Holder-Espinasse, M.H.Houcinat, N.Hanna, N.Leperrier, N.Chassaing, N.Philip, N.Boute, O.Van Kien, P.K.Parent, P.Bitoun, P.Sarda, P.Vabres, P.Jouk, P.-S.Touraine, R.El Chehadeh, S.Whalen, S.Marlin, S.Passemard, S.Grotto, S.Bellanger, S.A.Blesson, S.Nambot, S.Naudion, S.Lyonnet, S.Odent, S.Attie-Bitach, T.Busa, T.Drouin-Garraud, V.Layet, V.Bizaoui, V.Cusin, V.Capri, Y.Alembik, Y.
In: Genetics in Medicine. (Genetics in Medicine, April 2023, 25(4))
Academic Journal
Alarcón, P.Campistol, J.Serrano, M.Climent, S.Valenzuela, I.Grondona, F.L.Teixidó-Tura, G.Tizzano, E.F.Monseny, A.M.Botet, J.Álvarez, S.Cigudosa, J.C.Fernández Jaén, A.Bardón Rivera, M.B.Ruiz-Pérez, V.L.Cosentino, V.Tenorio, J.Arias, P.Dapía, I.García-Miñaur, S.Palomares Bralo, M.Ramos, S.Solís, M.Santos-Simarro, F.Gordo, G.Nevado, J.Hernández, A.Rosa, A.L.Blanquer, A.Alix, A.G.Santana, A.Delicado, A.Alonso, A.Rodríguez, A.Sanchis, A.Moreno, A.García, A.P.Vega, A.Bredani, A.Solari, A.P.Villavicencio, A.Acosta, A.Nieto, A.González, A.M.C.Baldellon, A.Meneses, A.G.Carrascal, A.M.de Bustamante, A.D.Ocasar, A.Gener, B.González, B.Groisman, B.Coffee, B.Martín, C.A.Fernández, C.A.Benito, C.Armengod, C.G.Seisdedos, C.M.Roche, C.Arberas, C.Perandones, C.Pacheco, C.T.Contessotto, C.Olivas, C.Armenta, D.Cavalcanti, D.Elorza, D.Castilla, E.Zamora, E.Zambrano, E.Steichen, E.Navarro, E.G.Cruz, E.C.Gómez, E.G.Román, E.Goldschmidt, E.Marfil, E.Gean, E.Antolín, E.Jiménez, F.J.G.Sarries, F.J.M.Ramos, F.Grondona, F.L.Córdoba, F.Santos, F.Vargas, F.Martínez, F.Uzielli, G.Gacio, G.Mercado, G.Cassinelli, H.Orioli, I.Arroyo, I.López, I.D.Ramírez, I.O.Castroviejo, I.P.Pascual, I.P.Rio, I.V.Bueno, I.Portero, I.E.Sánchez, I.L.del Pozo, J.S.Campistol, J.Arcas, J.Fernández, J.Planells, J.G.Pisón, J.L.Barreiro, J.Núñez, J.V.Toral, J.F.Ramírez, J.Rosell, J.Vilaplana, J.de Almeida, J.C.C.Labarta, J.I.Herranz, J.L.Luna, J.L.F.Fuster, J.L.Díaz, J.M.Gairi, J.M.Sagredo, J.M.G.Piñero, J.A.Gutiérrez, J.C.L.Fernández, J.M.Siguero, J.P.L.Tovar, J.Armstrong, J.Lara, J.Soriano, L.R.L.Cardoso, L.Arranz, L.De Alba, L.Cimbalistiene, L.Martorell, L.Solana, L.G.G.Jurado, L.P.Ariztegui, M.A.L.Molina, M.A.García, M.C.Lozano, M.F.Merillas, M.J.A.Martínez-Frías, M.L.Jadraque, M.R.Pérez, M.ªA.G.Pedreira, M.ªM.R.Guardia, M.ªN.M.Ribate, M.ªP.López, M.ªT.G.Pumarega, M.ªT.M.Segovia, M.Lizama, M.Lorente, M.J.Pombo, M.Martínez, M.Tabernero, M.Ramos, M.A.Ballesta, M.Belar, M.Lautre, M.J.Cruz, M.Artigas, M.Villanueva, M.Torrabías, M.del Campo, M.Vila, M.T.Urioste, M.Rosello, M.Rahman, N.Kantaputra, N.Matos, P.P.Dorao, P.Casano, P.Mallada, P.L.Olivares, P.Tirado, P.Bernardi, P.León, R.C.Cañete, R.Gaztañaga, R.Velazquez, R.Samahuja, R.V.Delgado, R.P.Villaverde, R.S.Gracia, R.Scott, R.Valdez, R.Arteaga, R.Cedeño, R.Cazorla, R.Iglesias, R.M.Bronberg, R.Climent, S.Barreiro, S.C.Kapoor, S.Martín, S.V.Miñaur, S.G.Kleppe, S.Santillán, S.Calvo, T.Vendrell, T.González, V.L.López, V.Lotersztein, V.Méndez, V.Albiach, V.López, V.M.N.Soler, V.Aoki, Y.Lapunzina, P.
In: European Journal of Human Genetics. (European Journal of Human Genetics, 1 April 2020, 28(4):469-479)
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