학술논문
'학술논문'
에서 검색결과 27건 | 목록
1~10
Academic Journal
Weber, Jonasz J.; Czisch, Leah; Pereira Sena, Priscila; Fath, Florian; Huridou, Chrisovalantou; Schwarz, Natasa; Incebacak Eltemur, Rana D.; Würth, Anna; Weishäupl, Daniel; Döcker, Miriam; Blumenstock, Gunnar; Martins, Sandra; Sequeiros, Jorge; Rouleau, Guy A.; Jardim, Laura Bannach; Saraiva-Pereira, Maria-Luiza; França, Jr., Marcondes C.; Gordon, Carlos R.; Zaltzman, Roy; Cornejo-Olivas, Mario R.; van de Warrenburg, Bart P. C.; Durr, Alexandra; Brice, Alexis; Bauer, Peter; Klockgether, Thomas; Schöls, Ludger; Riess, Olaf; Schmidt, Thorsten
Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 148(1)
Academic Journal
Maximilian G. W. Witzel; Christian Gebhard; Sören Wenzel; Saskia Kleier; Birgit Eichhorn; Peter Lorenz; Laura von der Heyden; Marius Kuhn; Manuel Luedeke; Miriam Döcker; Jerome Jüngling; Björn Schulte; Konstanze Hörtnagel; Ralf Glaubitz; Sarah Knippenberger; Anna Teubert; Angela Abicht; Teresa M. Neuhann
Frontiers in Neurology, Vol 14 (2023)
Academic Journal
Witzel, Maximilian G. W.; Gebhard, Christian; Wenzel, Soeren; Kleier, Saskia; Eichhorn, Birgit; Lorenz, Peter; von der Heyden, Laura; Kuhn, Marius; Luedeke, Manuel; Doecker, Miriam; Juengling, Jerome; Schulte, Bjoern; Hoertnagel, Konstanze; Glaubitz, Ralf; Knippenberger, Sarah; Teubert, Anna; Abicht, Angela; Neuhann, Teresa M.
Academic Journal
Hörtnagel, Konstanze; Krägeloh-Mann, Inge; Bornemann, Antje; Döcker, Miriam; Biskup, Saskia; Mayrhofer, Heidi; Battke, Florian; du Bois, Gabriele; Harzer, Klaus
Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. November 2016 39(6):849-857
Electronic Resource
Wolff, Markus; Johannesen, Katrine M.; Hedrich, Ulrike B.S.; Masnada, Silvia; Rubboli, Guido; Gardella, Elena; Lesca, Gaetan; Ville, Dorothée; Milh, Mathieu; Villard, Laurent; Afenjar, Alexandra; Chantot-Bastaraud, Sandra; Mignot, Cyril; Lardennois, Caroline; Nava, Caroline; Schwarz, Niklas; Gérard, Marion; Perrin, Laurence; Doummar, Diane; Auvin, Stéphane; Miranda, Maria J.; Hempel, Maja; Brilstra, Eva; Knoers, Nine; Verbeek, Nienke; Van Kempen, Marjan; Braun, Kees P.; Mancini, Grazia; Biskup, Saskia; Hörtnagel, Konstanze; Döcker, Miriam; Bast, Thomas; Loddenkemper, Tobias; Wong-Kisiel, Lily; Baumeister, Friedrich M.; Fazeli, Walid; Striano, Pasquale; Dilena, Robertino; Fontana, Elena; Zara, Federico; Kurlemann, Gerhard; Klepper, Joerg; Thoene, Jess G.; Arndt, Daniel H.; Deconinck, Nicolas; Schmitt-Mechelke, Thomas; Maier, Oliver; Muhle, Hiltrud; Wical, Beverly; Møller, Rikke S.
Wolff , M , Johannesen , K M , Hedrich , U B S , Masnada , S , Rubboli , G , Gardella , E , Lesca , G , Ville , D , Milh , M , Villard , L , Afenjar , A , Chantot-Bastaraud , S , Mignot , C , Lardennois , C , Nava , C , Schwarz , N , Gérard , M , Perrin , L , Doummar , D , Auvin , S , Miranda , M J , Hempel , M , Brilstra , E , Knoers , N , Verbeek , N , Van Kempen , M , Braun , K P , Mancini , G , Biskup , S , Hörtnagel , K , Döcker , M , Bast , T , Loddenkemper , T , Wong-Kisiel , L , Baumeister , F M , Fazeli , W , Striano , P , Dilena , R , Fontana , E , Zara , F , Kurlemann , G , Klepper , J , Thoene , J G , Arndt , D H , Deconinck , N , Schmitt-Mechelke , T , Maier , O , Muhle , H , Wical , B & Møller , R S 2017 , ' Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A -related disorders ' , Brain , vol. 140 , no. 5 , pp. 1316-1336 .
Academic Journal
Ambrosino, Paolo; Soldovieri, Maria Virginia; Bast, Thomas; Turnpenny, Peter D.; Uhrig, Sabine; Biskup, Saskia; Doecker, Miriam; Fleck, Thilo; Mosca, Ilaria; Manocchio, Laura; Iraci, Nunzio; Taglialatela, Maurizio; Lemke, Johannes R.
Electronic Resource
Genetica Klinische Genetica; Brain; Child Health; Genetica; Genetica Oper. Mangt Genoom Diagnostiek; Genetica Sectie Genoomdiagnostiek; ZL Kinder Ner en Nec Medisch; Wolff, Markus; Johannesen, Katrine M; Hedrich, Ulrike B S; Masnada, Silvia; Rubboli, Guido; Gardella, Elena; Lesca, Gaetan; Ville, Dorothée; Milh, Mathieu; Villard, Laurent; Afenjar, Alexandra; Chantot-Bastaraud, Sandra; Mignot, Cyril; Lardennois, Caroline; Nava, Caroline; Schwarz, Niklas; Gérard, Marion; Perrin, Laurence; Doummar, Diane; Auvin, Stéphane; Miranda, Maria J; Hempel, Maja; Brilstra, Eva; Knoers, Nine; Verbeek, Nienke; van Kempen, Marjan; Braun, Kees P; Mancini, Grazia; Biskup, Saskia; Hörtnagel, Konstanze; Döcker, Miriam; Bast, Thomas; Loddenkemper, Tobias; Wong-Kisiel, Lily; Baumeister, Friedrich M; Fazeli, Walid; Striano, Pasquale; Dilena, Robertino; Fontana, Elena; Zara, Federico; Kurlemann, Gerhard; Klepper, Joerg; Thoene, Jess G; Arndt, Daniel H; Deconinck, Nicolas; Schmitt-Mechelke, Thomas; Maier, Oliver; Muhle, Hiltrud; Wical, Beverly; Finetti, Claudio; Brückner, Reinhard; Pietz, Joachim; Golla, Günther; Jillella, Dinesh; Linnet, Karen M; Charles, Perrine; Moog, Ute; Õiglane-Shlik, Eve; Mantovani, John F; Park, Kristen; Deprez, Marie; Lederer, Damien; Mary, Sandrine; Scalais, Emmanuel; Selim, Laila; Van Coster, Rudy; Lagae, Lieven; Nikanorova, Marina; Hjalgrim, Helle; Korenke, G Christoph; Trivisano, Marina; Specchio, Nicola; Ceulemans, Berten; Dorn, Thomas; Helbig, Katherine L; Hardies, Katia; Stamberger, Hannah; de Jonghe, Peter; Weckhuysen, Sarah; Lemke, Johannes R; Krägeloh-Mann, Ingeborg; Helbig, Ingo; Kluger, Gerhard; Lerche, Holger; Møller, Rikke S
Electronic Resource
Wolff, M. (Markus); Johannesen, K.M. (Katrine M.); Hedrich, U.B.S. (Ulrike B. S.); Masnada, S. (Silvia); Rubboli, G. (Guido); Gardella, E. (Elena); Lesca, G. (Gaetan); Ville, D. (Dorothée); Milh, M. (Mathieu); Villard, L. (Laurent); Afenjar, A. (Alexandra); Chantot-Bastaraud, S. (Sandra); Mignot, A.; Lardennois, C. (Caroline); Nava, C. (Caroline); Schwarz, N. (Niklas); Gérard, M. (Marion); Perrin, L. (Laurence); Doummar, D. (Diane); Auvin, S. (Stéphane); Miranda, M.J. (Maria J.); Hempel, M. (Maja); Brilstra, E. (Eva); Knoers, N.V.A.M. (Nine); Verbeek, N.E. (Nienke); Kempen, M.J.A. (M. J A) van; Braun, K.P. (Kees P.); Mancini, G.M.S. (Grazia); Biskup, S. (Saskia); Hörtnagel, K. (Konstanze); Döcker, M. (Miriam); Bast, T. (Thomas); Loddenkemper, T. (Tobias); Wong-Kisiel, L. (Lily); Baumeister, F.M. (Friedrich M.); Fazeli, W. (Walid); Striano, P. (Pasquale); Dilena, R. (Robertino); Fontana, E. (Elena); Zara, F. (Federico); Kurlemann, G. (Gerhard); Klepper, J. (Joerg); Thoene, J.G. (Jess G.); Arndt, D.H. (Daniel H.); Deconinck, N. (Nicolas); Schmitt-Mechelke, T. (Thomas); Maier, O. (Oliver); Muhle, H. (Hiltrud); Wical, B. (Beverly); Finetti, C. (Claudio); Brückner, R. (Reinhard); Pietz, J. (Joachim); Golla, G. (Günther); Jillella, D. (Dinesh); Linnet, K.M. (Karen M.); Charles, P. (Perrine); Moog, U. (Ute); Õiglane-Shlik, E. (Eve); Mantovani, J.F. (John F.); Park, K. (Kristen); Deprez, M. (Marie); Lederer, D. (Damien); Mary, S. (Sandrine); Scalais, E. (Emmanuel); Selim, L. (Laila); Coster, R.N.A. (R. N A) van; Lagae, L. (Lieven); Nikanorova, M. (Marina); Hjalgrim, H. (Helle); Korenke, G.C. (Christoph); Trivisano, M. (Marina); Specchio, N. (Nicola); Ceulemans, B. (Berten); Dorn, T. (Thomas); Helbig, K.L. (Katherine L.); Hardies, K. (K.); Stamberger, H. (Hannah); Jonghe, P. (P.) de; Weckhuysen, S. (Sarah); Lemke, J.R. (Johannes R.); Krägeloh-Mann, I. (Ingeborg); Helbig, I. (Ingo); Kluger, G. (Gerhard); Lerche, H. (Holger); Møller, R.S. (Rikke)
Academic Journal
Hoertnagel, Konstanze; Kraegeloh-Mann, Inge; Bornemann, Antje; Doecker, Miriam; Biskup, Saskia; Mayrhofer, Heidi; Battke, Florian; du Bois, Gabriele; Harzer, Klaus
Academic Journal
Larsen, Jan; Carvill, Gemma L.; Gardella, Elena; Kluger, Gerhard; Schmiedel, Gudrun; Barisic, Nina; Depienne, Christel; Brilstra, Eva; Mang, Yuan; Nielsen, Jens Erik Klint; Kirkpatrick, Martin; Goudie, David; Goldman, Rebecca; Jaehn, Johanna A.; Jepsen, Birgit; Gill, Deepak; Doecker, Miriam; Biskup, Saskia; McMahon, Jacinta M.; Koeleman, Bobby; Harris, Mandy; Braun, Kees; de Kovel, Carolien G. F.; Marini, Carla; Specchio, Nicola; Djemie, Tania; Weckhuysen, Sarah; Tommerup, Niels; Troncoso, Monica; Troncoso, Ledia; Bevot, Andrea; Wolff, Markus; Hjalgrim, Helle; Guerrini, Renzo; Scheffer, Ingrid E.; Mefford, Heather C.; Moller, Rikke S.; EuroEPINOMICS RES Consortium CRP
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