학술논문
'학술논문'
에서 검색결과 37건 | 목록
1~10
Academic Journal
Gaasterland, C.M.W.; Klein Haneveld, M.J.; Vyshka, Klea; Hugon, A.; van Eeghen, A.M.; Alhambra, Norma; Anderlid, Britt-Marie; Andres, Stephanie; Aten, Emmelien; Guedes, Rui Barbosa; Bonaglia, Maria C.; Bourgeron, Thomas; Burdeus-Olavarrieta, Monica; Carbin, Maya J.; Cooke, Jennifer; Damstra, Robert J.; de Coo, Irenaeus F.M.; Di Domenico, Stella; Evans, D. Gareth; Fernández-Fructuoso, José Ramón; Grabrucker, Andreas M.; Gunnarson, Cecilia; Hadzsiev, Kinga; Hennekam, Raoul C.; Jesse, Sarah; Kant, Sarina G.; Koza, Sylvia A.; Kuiper, Els; Landlust, Annemiek M.; Lapunzina, Pablo; Loth, Eva; Mansour, Sahar; Maruani, Anna; Mattina, Teresa; Matulevičienė, Aušra; Nevado, Julián; Parker, Susanne; Robert, Sandra; Sala, Carlo; San José Cáceres, Antonia; Schön, Michael; Šiaurytė, Kamilė; Stemkens, Daphne; Stiefsohn, Dominique; Swillen, Ann; Tabet, Anne C.; Toro, Roberto; Turner, Alison; van Balkom, Ingrid D.C.; van Buggenhout, Griet; van Eeghen, Agnies M.; van Ravenswaaij-Arts, Conny M.A.; van Weering, Sabrina; Verpelli, Chiara; Vignes, Stephane; Vogels, Annick; Walinga, Margreet; Stemkens, D.; Maruani, A.; Hadzsiev, K.; van Balkom, I.D.C.
In European Journal of Medical Genetics July 2023 66(7)
Academic Journal
Boer, Elke de; Cohen, Enzo; Cuesta, Isabel; Danis, Daniel; Denommé-Pichon, Anne-Sophie; Gao, Fei; Gilissen, Christian; Horvath, Rita; Johari, Mridul; Johanson, Lennart; Li, Shuang; Matalonga, Leslie; Morsy, Heba; Nelson, Isabelle; Paramonov, Ida; Paske, Iris B.A.W. te; Robinson, Peter; Savarese, Marco; Steyaert, Wouter; Töpf, Ana; Trimouille, Aurélien; van der Velde, Joeri K.; Vandrovcova, Jana; Vitobello, Antonio; Zurek, Birte; Abbot, Kristin M.; Banka, Siddharth; Benetti, Elisa; de Boer, Elke; Casari, Giorgio; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Ellwanger, Kornelia; Faivre, Laurence; Graessner, Holm; Haack, Tobias B.; Hammarsjö, Anna; Havlovicova, Marketa; Hoischen, Alexander; Hugon, Anne; Jackson, Adam; Kerstjens, Mieke; Kleefstra, Tjitske; Lindstrand, Anna; Martín, Estrella López; Macek, Milan, Jr.; Maystadt, Isabelle; Morleo, Manuela; Nigro, Vicenzo; Nordgren, Ann; Pettersson, Maria; Pinelli, Michele; Pizzi, Simone; Posada, Manuel; Radio, Francesca C.; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Santen, Gijs W.E.; Schwarz, Martin; Tartaglia, Marco; Thauvin, Christel; Torella, Annalaura; Verloes, Alain; Vissers, Lisenka; Votypka, Pavel; Vyshka, Klea; Zguro, Kristina; Yaldiz, Burcu; Laurie, Steve; de Reuver, Rick; Kwint, Michael; Pfundt, Rolph; Willemsen, Michèl A.A.P.; Vries, Bert B.A. de; Vitobello, A.; Vissers, Lisenka E.L.M.
In European Journal of Medical Genetics January 2022 65(1)
Academic Journal
Lacombe, D.; Van-Gils, J.; Fergelot, P.; Taupiac, E.; Bloch-Zupan, A.; Bredrup, C.; Cooper, E.B.; Houge, S.D.; García-Miñaúr, S.; Kayserili, H.; Larizza, L.; Lopez Gonzalez, V.; Menke, L.A.; Huisman, S.A.; Hennekam, R.C.; Milani, D.; Meossi, C.; Prada, E.; Saettini, F.; Stevens, C.A.; Tooke, L.; Van Der Zee, J.A.; Van Genderen, M.M.; Waite, J.; Adrien, J.-L.; Bartsch, O.; Bitoun, P.; Bouts, A.H.M.; Cueto-González, A.M.; Valenzuena Palafoll, I.; Dominguez-Garrido, E.; Duijkers, F.A.; Halstead, E.; Mullins, J.; Nikkel, S.M.; Oliver, C.; Rei, A.; Russell, J.; Totaro, N.; Riddle, I.; Wiley, S.; Rodriguez-Fonseca, C.; Rodríguez Pena, R.; Saba, A.; Santos-Simarro, F.; Simpson, B.N.; Smith, D.F.; Stevens, M.F.; Szakszon, K.; Van Der Kaay, D.C.M.; Van Wijk, M.P.; Vyshka, K.
In: Journal of Medical Genetics . (Journal of Medical Genetics, 1 June 2024, 61(6):503-519)
Academic Journal
van Eeghen, A.M.; Gaasterland, C.M.W.; Haneveld, M.J.K.; van Eeghen, A.M.; van Eeghen, A.M.; van Eeghen, A.M.; van Eeghen, A.M.; Stemkens, D.; Fernández-Fructuoso, J.R.; Maruani, A.; Maruani, A.; Maruani, A.; Hadzsiev, K.; Hadzsiev, K.; van Balkom, I.D.C.; van Balkom, I.D.C.; van Balkom, I.D.C.; Alhambra, N.; Anderlid, B.-M.; Anderlid, B.-M.; Andres, S.; Aten, E.; Guedes, R.B.; Bonaglia, M.C.; Bourgeron, T.; Burdeus-Olavarrieta, M.; Burdeus-Olavarrieta, M.; Carbin, M.J.; Kuiper, E.; Cooke, J.; Damstra, R.J.; de Coo, I.F.M.; Di Domenico, S.; Evans, D.G.; Fernández-Fructuoso, J.R.; Grabrucker, A.M.; Grabrucker, A.M.; Grabrucker, A.M.; Gunnarson, C.; Gunnarson, C.; Gunnarson, C.; Hennekam, R.C.; Jesse, S.; Kant, S.G.; Koza, S.A.; van Ravenswaaij-Arts, C.M.A.; Walinga, M.; Landlust, A.M.; van Ravenswaaij-Arts, C.M.A.; Landlust, A.M.; Lapunzina, P.; Nevado, J.; Lapunzina, P.; Nevado, J.; Lapunzina, P.; Nevado, J.; Loth, E.; Mansour, S.; Mansour, S.; Maruani, A.; Mattina, T.; Mattina, T.; Matulevičienė, A.; Šiaurytė, K.; Parker, S.; Robert, S.; Sala, C.; Verpelli, C.; San José Cáceres, A.; San José Cáceres, A.; Schön, M.; Stemkens, D.; Stiefsohn, D.; Swillen, A.; Swillen, A.; Tabet, A.C.; Tabet, A.C.; Toro, R.; Turner, A.; van Balkom, I.D.C.; van Buggenhout, G.; van Eeghen, A.M.; van Weering, S.; Vignes, S.; Vogels, A.; Vyshka, K.; Vyshka, K.; Vyshka, K.; Hugon, A.
In: European Journal of Medical Genetics . (European Journal of Medical Genetics, July 2023, 66(7))
Academic Journal
Landlust, A.M.; van Balkom, I.D.C.; van Ravenswaaij-Arts, C.; Koza, S.A.; Walinga, M.; Carbin, M.; Robert, S.; Cooke, J.; Vyshka, K.
In: European Journal of Medical Genetics . (European Journal of Medical Genetics, July 2023, 66(7))
Conference
Denomme-Pichon, AS; de Boer, E; Jackson, A; Benetti, E; Banka, S; Casari, G; Ciolfi, A; Clayton-Smith, J; Dallapiccola, B; Ellwanger, K; Faivre, L; Gilissen, C; Graessner, H; Haack, TB; Hammarsjo, A; Havlovicova, M; Hoischen, A; Hugon, A; Kleefstra, T; Lindstrand, A; Lopez-Martin, E; Macek, M; Matalonga, L; Morleo, M; Nigro, V; Nordgren, A; Pettersson, M; Pinelli, M; Pizzi, S; Posada, M; Radio, FC; Renieri, A; Rooryck, C; Ryba, L; Schwarz, M; Tartaglia, M; Thauvin, C; Torella, A; Trimouille, A; Votypka, P; Vyshka, K; Zurek, B; Verloes, A; Vitobello, A; Vissers, L
EUROPEAN JOURNAL OF HUMAN GENETICS. 30(SUPPL 1):236-237
Academic Journal
Douzgou, S.; Dell’Oro, J.; Rei, A.; Fonseca, C.R.; Mullins, J.; Jusiewicz, I.; Huisman, S.; Hennekam, R.C.M.; Simpson, B.N.; Vyshka, K.; Milani, D.; Bartsch, O.; Lacombe, D.; García-Miñaúr, S.
In: European Journal of Human Genetics . (European Journal of Human Genetics, July 2022, 30(7):841-847)
Academic Journal
de Boer, E.; Kleefstra, T.; Vissers, L.E.L.M.; Ockeloen, C.W.; Gilissen, C.; Sablauskas, K.; Steyaert, W.; de Boer, E.; Hoischen, A.; Kleefstra, T.; Vissers, L.; Matalonga, L.; Laurie, S.; Matalonga, L.; Paramonov, I.; Paramonov, I.; Horvath, R.; Rodenburg, R.J.; Coenen, M.J.H.; Janssen, M.; Henssen, D.; Gilissen, C.; Steyaert, W.; Trimouille, A.; Verloes, A.; Cohen, E.; Nelson, I.; Cuesta, I.; Danis, D.; Robinson, P.; Denommé-Pichon, A.-S.; Duffourd, Y.; Vitobello, A.; Faivre, L.; Thauvin, C.; Johari, M.; Savarese, M.; Li, S.; van der Velde, J.K.; Peters, S.; Prasanth, S.; Töpf, A.; Banka, S.; Clayton-Smith, J.; Jackson, A.; Benetti, E.; Renieri, A.; Casari, G.; Torella, A.; Nigro, V.; Pinelli, M.; Ciolfi, A.; Dallapiccola, B.; Pizzi, S.; Tartaglia, M.; Haack, T.B.; Zurek, B.; Hammarsjö, A.; Lindstrand, A.; Nordgren, A.; Pettersson, M.; Havlovicova, M.; Macek, M.; Ryba, L.; Schwarz, M.; Hugon, A.; Verloes, A.; Vyshka, K.; López-Martín, E.; Posada, M.; Radio, F.C.; Rooryck, C.
In: European Journal of Human Genetics . (European Journal of Human Genetics, September 2021, 29(9):1359-1368)
Academic Journal
Hugon, Anne; Immesoete, C.; Chaumette, B.; Clayton-Smith, J.; Cravero, C.; Daugy, S.; Dan, D.; Houge, S. Douzgou; Faivre, L.; Heide, S.; Hennekam, R. C.; Kleefstra, T.; Laporte, L.; Marchetti-Waternaux, I.; Manunta, A.; Mosiello, G.; Peudenier, S.; Portes, V. Des; Reymond, M. P.; Selatnia, S.; Sundqvist, A.; Tartaglia, M.; Tumer, Z.; Tumiene, B.; Vissers, L.; Vyshka, K.; Wieczorek, D.; Zampino, G.; Renieri, A.; Verloes, A.
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[Author] Vyshka K
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