학술논문

발행년
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(예 : 2010-2015)
'학술논문' 에서 검색결과 39건 | 목록 1~10
Academic Journal
In: European Journal of Human Genetics. (European Journal of Human Genetics, February 2024, 32(2):190-199)
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
In Archives de pédiatrie May 2015 22(5) Supplement 1:167-168
Academic Journal
Gillentine, M.A.Wang, T.Hoekzema, K.Guo, H.Eichler, E.E.Rosenfeld, J.Liu, P.Bacino, C.A.Xia, K.Kim, C.N.Nowakowski, T.De Vries, B.B.A.Vissers, L.E.L.M.Nordenskjold, M.Kvarnung, M.Lindstrand, A.Nordgren, A.Gecz, J.Iascone, M.Cereda, A.Scatigno, A.Maitz, S.Zanni, G.Bertini, E.Zweier, C.Schuhmann, S.Wiesener, A.Pepper, M.Panjwani, H.Earl, R.K.Bernier, R.A.Torti, E.Abid, F.Espineli, E.J.Lotze, T.Anselm, I.Srivastava, S.Atwal, P.Bhat, G.Cobian, K.Bird, L.M.Friedman, J.Wright, M.S.Callewaert, B.Petit, F.Mathieu, S.Afenjar, A.Christensen, C.K.White, K.M.Elpeleg, O.Berger, I.Fagerberg, C.Brasch-Andersen, C.Lauridsen, M.Sorensen, K.Hansen, L.K.Feyma, T.Hughes, S.Sullivan, B.Yan, S.Thiffault, I.Keller, K.Keren, B.Mignot, C.Kooy, F.Meuwissen, M.Basinger, A.Kukolich, M.Philips, M.Ortega, L.Drummond-Borg, M.Lehman, A.Lopez-Rangel, E.Levy, P.Lessel, D.Madan-Khetarpal, S.Sebastian, J.Vento, J.Vats, D.Benman, L.M.Mckee, S.Mirzaa, G.M.Muss, C.Pappas, J.Peeters, H.Romano, C.Elia, M.Galesi, O.Simon, M.E.H.van Gassen, K.L.I.Simpson, K.Stratton, R.Syed, S.Thevenon, J.Palafoll, I.V.Vitobello, A.Faivre, L.Bournez, M.Acampado, J.Ace, A.J.Amatya, A.Astrovskaya, I.Bashar, A.Brooks, E.Butler, M.E.Cartner, L.A.Chin, W.Chung, W.K.Daniels, A.M.Feliciano, P.Fleisch, C.Ganesan, S.Jensen, W.Lash, A.E.Marini, R.Myers, V.J.O’Connor, E.Rigby, C.Robertson, B.E.Shah, N.Shah, S.Singer, E.Snyder, L.A.G.Stephens, A.N.Tjernagel, J.Vernoia, B.M.Volfovsky, N.White, L.C.Hsieh, A.Shen, Y.Zhou, X.Turner, T.N.Bahl, E.Thomas, T.R.Brueggeman, L.Koomar, T.Michaelson, J.J.O’Roak, B.J.Barnard, R.A.Fombonne, E.J.Huang-Storms, L.Y.Pacheco, L.D.Mastel, S.A.Coppola, L.A.Gibbs, R.A.Muzny, D.Sabo, A.Baalman Ahmed, K.L.Constantini, J.Siegel, M.Abbeduto, L.Amaral, D.G.Hilscher, B.A.Li, D.Smith, K.Thompson, S.Albright, C.Butter, E.M.Eldred, S.Hanna, N.Jones, M.Coury, D.L.Scherr, J.Pifher, T.Roby, E.Dennis, B.Higgins, L.Brown, M.Alessandri, M.Gutierrez, A.Hale, M.N.Herbert, L.M.Schneider, H.L.David, G.Annett, R.D.Sarver, D.E.Arriaga, I.Camba, A.Gulsrud, A.C.Haley, M.McCracken, J.T.Sandhu, S.Tafolla, M.Yang, W.S.Carpenter, L.A.Bradley, C.C.Gwynette, F.Manning, P.Shaffer, R.Thomas, C.Booker, S.Erickson, C.A.Fox, E.A.Gerdts, J.A.Ho, T.Cho, D.Piven, J.Lamarche, E.Lechniak, H.Soorya, L.V.Gordon, R.Wainer, A.Yeh, L.Ochoa-Lubinoff, C.Russo, N.Berry-Kravis, E.Prock, L.M.Pawlowski, K.G.Matthews, E.T.Brewster, S.J.Hojlo, M.A.Abada, E.Sahin, M.Riley, K.D.Carmody, E.Murali, S.C.Harvey, W.T.Kaplan, H.E.Pierce, K.L.DeMarco, L.Horner, S.Pandey, J.Plate, S.Esler, A.Francis, S.Jarrett, A.Jacob, S.Lillie, N.Gunderson, J.Istephanous, D.Simon, L.Wasserberg, O.Fatemi, A.Hutter, H.Landa, R.J.McKenzie, A.P.Neely, J.Singh, V.Van Metre, B.Wodka, E.L.Rachubinski, A.L.Rosenberg, C.R.Kanne, S.M.Shocklee, A.D.Takahashi, N.Bridwell, S.L.Klimczac, R.L.Mahurin, M.A.Cotrell, H.E.Grant, C.A.Hunter, S.G.Martin, C.L.Taylor, C.M.Walsh, L.K.Dent, K.A.Mason, A.Sziklay, A.Smith, C.J.
In: Genome Medicine. (Genome Medicine, 01 December 2021, 13(1))
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[AR] Bournez, M.
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