학술논문
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'학술논문'
에서 검색결과 152건 | 목록
1~20
Academic Journal
Meyer, Philipp; Kusche, Rachel; Mori, Andrea Capone; Kaeppeli, Daniela; Schulzke, Sven M.; Brotzmann, Marc; Ramelli, Gian Paolo; Goeggel, Barbara Simonetti; McDougall, Jane; Humpl, Tilman; Steinlin, Maja; Grunt, Sebastian; Gebauer, Mathias; Hassink, Ralph; Riedel, Thomas; Keller, Elmar; Killer, Christa; Blanchard, Gaelle; Pfister, Riccardo E.; Huppi, Petra S.; Borradori-Tolsa, Cristina; Tolsa, Jean-François; Roth-Kleiner, Matthias; Bickle-Graz, Myriam; Stocker, Martin; Schmitt-Mechelke, Thomas; Bauder, Florian; Erkert, Bernd; Mueller, Anita; Ecoffey, Marc; Malzacher, Andreas; Rogdo, Bjarte; Lang-Dullenkopf, Anette; Hegi, Lukas; von Rhein, Michael; Bernet, Vera; Tomaske, Maren; Bassler, Dirk; Arlettaz, Romaine; Hagmann, Cornelia; Latal, Bea; Etter, Ruth; Adams, Mark ; Natalucci, Giancarlo ; Schneider, Juliane ; Tolsa, Cristina Borradori ; Pfister, Riccardo
In The Journal of Pediatrics October 2021 237:213-220
Academic Journal
Emergency Medicine Journal. 38:919-922
Academic Journal
Mori, Andrea Capone ; Bigi, Sandra ; Datta, Alexandre ; Fluss, Joël ; Hackenberg, Annette ; Keller, Elmar ; MacKay, Mark T. ; Maier, Olive ; Mercati, Danielle ; Marcoz, Jean-Pierre ; Poloni, Claudia ; Ramelli, Gian Paolo ; Regényi, Maria ; Schmid, Regula ; Schmitt-Mechelke, Thomas ; Wiedemann, Andreas ; Pastore-Wapp, Manuela ; Slavova, Nedelina ; Steiner, Leonie ; Weisstanner, Christian ; Regényi, Mária ; Steinlin, Maja ; Grunt, Sebastian
In European Journal of Paediatric Neurology March 2020 25:97-105
Academic Journal
Menno D. Stellingwerff; Sonia Figuccia; Emanuele Bellacchio; Karin Alvarez; Claudia Castiglioni; Pinar Topaloglu; Chloe A. Stutterd; Corrie E. Erasmus; Amarilis Sanchez‐Valle; Sebastien Lebon; Sarah Hughes; Thomas Schmitt-Mechelke; Gessica Vasco; Gabriel Chow; Elisa Rahikkala; Cristina Dallabona; Cecilia Okuma; Chiara Aiello; Paola Goffrini; Truus E.M. Abbink; Enrico S. Bertini; Marjo S. Van der Knaap
Neurol Genet
Stellingwerff, M D, Figuccia, S, Bellacchio, E, Alvarez, K, Castiglioni, C, Topaloglu, P, Stutterd, C A, Erasmus, C E, Sanchez-Valle, A, Lebon, S, Hughes, S,Schmitt -Mechelke , T, Vasco, G, Chow, G, Rahikkala, E, Dallabona, C, Okuma, C, Aiello, C, Goffrini, P, Abbink, T E M, Bertini, E S & Van der Knaap, M S 2021, 'LBSL : Case Series and DARS2 Variant Analysis in Early Severe Forms With Unexpected Presentations', Neurology: Genetics, vol. 7, no. 2, pp. e559. https://doi.org/10.1212/NXG.0000000000000559
Neurology. Genetics, 7, 2
Neurology. Genetics, vol. 7, no. 2, pp. e559
Stellingwerff, M D, Figuccia, S, Bellacchio, E, Alvarez, K, Castiglioni, C, Topaloglu, P, Stutterd, C A, Erasmus, C E, Sanchez-Valle, A, Lebon, S, Hughes, S,
Neurology. Genetics, 7, 2
Neurology. Genetics, vol. 7, no. 2, pp. e559
Academic Journal
Papuc, Sorina M; Abela, Lucia; Steindl, Katharina; Begemann, Anaïs; Simmons, Thomas L; Schmitt, Bernhard; Zweier, Markus; Oneda, Beatrice; Socher, Eileen; Crowther, Lisa M; Wohlrab, Gabriele; Gogoll, Laura; Poms, Martin; Seiler, Michelle; Papik, Michael; Baldinger, Rosa; Baumer, Alessandra; Asadollahi, Reza; Kroell-Seger, Judith; Schmid, Regula; Iff, Tobias; Schmitt-Mechelke, Thomas; Otten, Karoline; Hackenberg, Annette; Addor, Marie-Claude; Klein, Andrea; Azzarello-Burri, Silvia; Sticht, Heinrich; Joset, Pascal; Plecko, Barbara; Rauch, Anita
Eur J Hum Genet
European journal of human genetics, vol. 27, no. 3, pp. 408-421
European Journal of Human Genetics, 27 (3)
European journal of human genetics, vol. 27, no. 3, pp. 408-421
European Journal of Human Genetics, 27 (3)
Academic Journal
In Annals of Emergency Medicine April 2018 71(4):467-469
Academic Journal
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, Nicola; 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
Brain
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 V, Verbeek, N E, van Kempen, M J A, Braun, K P J, 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, Finetti, C, Brückner, R, Pietz, J, Golla, G, Jillella, D, Linnet, K M, Charles, P, Moog, U, Õiglane-Shlik, E, Mantovani, J F, Park, K, Deprez, M, Lederer, D, Mary, S, Scalais, E, Selim, L, Van Coster, R, Lagae, L, Nikanorova, M, Hjalgrim, H, Korenke, G C, Trivisano, M, Specchio, N, Ceulemans, B, Dorn, T, Helbig, K L, Hardies, K, Stamberger, H, De Jonghe, P, Weckhuysen, S, Lemke, J R, Krägeloh-Mann, I, Helbig, I, Kluger, G, Lerche, H & Møller, R S 2017, ' Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders ', Brain, vol. 140, no. 5, pp. 1316–1336 . https://doi.org/10.1093/brain/awx054
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, Gerard, 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, Hoertnagel, K, Doecker, M, Bast, T, Loddenkemper, T, Wong-Kisiel, L, 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, Finetti, C, Brueckner, R, Pietz, J, Golla, G, Jillella, D, Linnet, K M, Charles, P, Moog, U, Oiglane-Shlik, E, Mantovani, J F, Park, K, Deprez, M, Lederer, D, Mary, S, Scalais, E, Selim, L, Van Coster, R, Lagae, L, Nikanorova, M, Hjalgrim, H, Korenke, G C, Trivisano, M, Specchio, N, Ceulemans, B, Dorn, T, Helbig, K L, Hardies, K, Stamberger, H, de Jonghe, P, Weckhuysen, S, Lemke, J R, Kraegeloh-Mann, I, Helbig, I, Kluger, G, Lerche, H & Moller, R S 2017, 'Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders', Brain, vol. 140, no. 5, pp. 1316-1336. https://doi.org/10.1093/brain/awx054
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 V, Verbeek, N E, van Kempen, M J A, Braun, K P J, 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,
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, Gerard, 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, Hoertnagel, K, Doecker, M, Bast, T, Loddenkemper, T, Wong-Kisiel, L, Fazeli, W, Striano, P, Dilena, R, Fontana, E, Zara, F, Kurlemann, G, Klepper, J, Thoene, J G, Arndt, D H, Deconinck, N,
Academic Journal
Jackson, Christopher B. ; Hahn, Dagmar ; Schröter, Barbara ; Richter, Uwe ; Battersby, Brendan J. ; Schmitt-Mechelke, Thomas ; Marttinen, Paula ; Nuoffer, Jean-Marc ; Schaller, André
In European Journal of Medical Genetics June 2017 60(6):345-351
Academic Journal
Buerki, Sarah E. ; Grandgirard, Denis ; Datta, Alexandre N. ; Hackenberg, Annette ; Martin, Florence ; Schmitt-Mechelke, Thomas ; Leib, Stephen L. ; Steinlin, Maja
In European Journal of Paediatric Neurology March 2016 20(2):252-260
Academic Journal
Johannes Spenger; Esther M. Maier; Katharina Wechselberger; Florian Bauder; Melanie Kocher; Wolfgang Sperl; Martin Preisel; Katharina A. Schiergens; Vassiliki Konstantopoulou; Wulf Röschinger; Johannes Häberle; Thomas Schmitt-Mechelke; Saskia B. Wortmann; Ralph Fingerhut
International Journal of Neonatal Screening, Vol 8, Iss 1, p 2 (2021)
Academic Journal
Johannes Spenger; Esther M. Maier; Katharina Wechselberger; Florian Bauder; Melanie Kocher; Wolfgang Sperl; Martin Preisel; Katharina A. Schiergens; Vassiliki Konstantopoulou; Wulf Röschinger; Johannes Häberle; Thomas Schmitt-Mechelke; Saskia B. Wortmann; Ralph Fingerhut
International Journal of Neonatal Screening, Vol 7, Iss 2, p 32 (2021)
Academic Journal
Grunt, Sebastian; Mazenauer, Lea; Buerki, Sarah E; Boltshauser, Eugen; Mori, Andrea Capone; Datta, Alexandre N; Fluss, Joël; Mercati, Danielle; Keller, Elmar; Maier, Oliver; Poloni, Claudia; Ramelli, Gian-Paolo; Schmitt-Mechelke, Thomas; Steinlin, Maja
Pediatrics, Vol. 135, No 5 (2015) pp. e1220-e1228
Academic Journal
Maja, Steinlin; Andrea, Klein; Karin, Haas-Lude; Dimitrios, Zafeiriou; Susi, Strozzi; Thomas, Müller; Danielle, Gubser-Mercati; Thomas, Schmitt Mechelke; Ingeborg, Krägeloh-Mann; Eugen, Boltshauser
European Journal of Paediatric Neurology. 11:146-152
Academic Journal
Bartholdi, Deborah; Stray-Pedersen, Asbjørg; Azzarello-Burri, Silvia; Kibaek, Maria; Kirchhoff, Maria; Oneda, Beatrice; Rødningen, Olaug; Schmitt-Mechelke, Thomas; Rauch, Anita; Kjaergaard, Susanne
Bartholdi, D, Stray-Pedersen, A, Azzarello-Burri, S, Kibæk, M, Kirchhoff, M, Oneda, B, Rodningen, O, Schmitt -Mechelke , T, Rauch, A & Kjaergaard, S 2014, ' A Newly Recognized 13q12.3 Microdeletion Syndrome Characterized by Intellectual Disability, Microcephaly, and Eczema/Atopic Dermatitis Encompassing the HMGB1 and KATNAL1 Genes ', American Journal of Medical Genetics. Part A, vol. 164, no. 5, pp. 1277-1283 . https://doi.org/10.1002/ajmg.a.36439
Academic Journal
Studer, Martina; Boltshauser, Eugen; Capone Mori, Andrea; Datta, Alexandre; Fluss, Joel; Mercati, Danielle; Hackenberg, Annette; Keller, Elmar; Maier, Oliver; Marcoz, Jean-Pierre; Ramelli, Gian-Paolo; Poloni, Claudia; Schmid, Regula; Schmitt-Mechelke, Thomas; Wehrli, Edith; Heinks, Theda; Steinlin, Maja
Neurology, Vol. 82, No 9 (2014) pp. 784-92
Academic Journal
Journal of Neurosurgery: Pediatrics. 13:170-177
Academic Journal
Lascano, Agustina Maria; Lemkaddem, Alia; Granziera, Cristina; Korff, Christian; Boex, Colette; Jenny, Benoît John; Schmitt-Mechelke, Thomas; Thiran, Jean-Philippe; Garibotto, Valentina; Vargas Gomez, Maria Isabel; Schaller, Karl Lothard; Seeck, Margitta; Vulliemoz, Serge
Epilepsy Research, Vol. 105, No 1-2 (2013) pp. 245-9
Epilepsy research
Epilepsy research
Academic Journal
Bartholdi, Deborah; Asadollahi, Reza; Oneda, Beatrice; Schmitt-Mechelke, Thomas; Tonella, Paolo; Baumer, Alessandra; Rauch, Anita
American Journal of Medical Genetics Part A. 161:1853-1859
Academic Journal
Journal of Neurology. 260:1545-1553
Academic Journal
Goeggel Simonetti, Barbara; Ritter, Barbara; Gautschi, Matthias; Wehrli, Edith; Boltshauser, Eugen; Schmitt-Mechelke, Thomas; Weber, Peter; Weissert, Markus; El-Koussy, Marwan; Steinlin, Maja
Developmental Medicine & Child Neurology. 55:65-70
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