학술논문
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'학술논문'
에서 검색결과 11건 | 목록
1~20
Academic Journal
Davor Lessel; Daniela M. Zeitler; Margot R. F. Reijnders; Andriy Kazantsev; Fatemeh Hassani Nia; Alexander Bartholomäus; Victoria Martens; Astrid Bruckmann; Veronika Graus; Allyn McConkie-Rosell; Marie McDonald; Bernarda Lozic; Ee-Shien Tan; Erica Gerkes; Jessika Johannsen; Jonas Denecke; Aida Telegrafi; Evelien Zonneveld-Huijssoon; Henny H. Lemmink; Breana W. M. Cham; Tanja Kovacevic; Linda Ramsdell; Kimberly Foss; Diana Le Duc; Diana Mitter; Steffen Syrbe; Andreas Merkenschlager; Margje Sinnema; Bianca Panis; Joanna Lazier; Matthew Osmond; Taila Hartley; Jeremie Mortreux; Tiffany Busa; Chantal Missirian; Pankaj Prasun; Sabine Lüttgen; Ilaria Mannucci; Ivana Lessel; Claudia Schob; Stefan Kindler; John Pappas; Rachel Rabin; Marjolein Willemsen; Thatjana Gardeitchik; Katharina Löhner; Patrick Rump; Kerith-Rae Dias; Carey-Anne Evans; Peter Ian Andrews; Tony Roscioli; Han G. Brunner; Chieko Chijiwa; M. E. Suzanne Lewis; Rami Abou Jamra; David A. Dyment; Kym M. Boycott; Alexander P. A. Stegmann; Christian Kubisch; Ene-Choo Tan; Ghayda M. Mirzaa; Kirsty McWalter; Tjitske Kleefstra; Rolph Pfundt; Zoya Ignatova; Gunter Meister; Hans-Jürgen Kreienkamp
Nature Communications, Vol 11, Iss 1, Pp 1-14 (2020)
Academic Journal
Deniz Kanber; Tea Berulava; Ole Ammerpohl; Diana Mitter; Julia Richter; Reiner Siebert; Bernhard Horsthemke; Dietmar Lohmann; Karin Buiting
PLoS Genetics, Vol 5, Iss 12, p e1000790 (2009)
Academic Journal
Vincent Strehlow; Henrike O Heyne; Danique R M Vlaskamp; Katie F M Marwick; Gabrielle Rudolf; Julitta de Bellescize; Saskia Biskup; Eva H Brilstra; Oebele F Brouwer; Petra M C Callenbach; Julia Hentschel; Edouard Hirsch; Peter C Kind; Cyril Mignot; Konrad Platzer; Patrick Rump; Paul A Skehel; David J A Wyllie; Giles E Hardingham; Conny M A van Ravenswaaij-Arts; Gaetan Lesca; Johannes R Lemke; Alexis Arzimanoglou; Paul B Augustijn; Patrick Van Bogaert; Helene Bourry; Peter Burfeind; Yoyo Chu; Brian Chung; Diane Doummar; Patrick Edery; Aviva Fattal-Valevski; Mélanie Fradin; Marion Gerard; Christa de Geus; Boudewijn Gunning; Danielle Hasaerts; Ingo Helbig; Katherine L Helbig; Rami Jamra; Mélanie Jennesson Lyver; Jolien S Klein Wassink-Ruiter; David A Koolen; Damien Lederer; Roelineke J Lunsing; Mikaël Mathot; Hélène Maurey; Shay Menascu; Anne Michel; Ghayda Mirzaa; Diana Mitter; Hiltrud Muhle; Rikke S Møller; Caroline Nava; Margaret O’Brien; Evelyn van Pinxteren-Nagler; Anne van Riesen; Christelle Rougeot; Damien Sanlaville; Jolanda H Schieving; Steffen Syrbe; Hermine E Veenstra-Knol; Nienke Verbeek; Dorothée Ville; Yvonne J Vos; Pascal Vrielynck; Sabrina Wagner; Sarah Weckhuysen; Marjolein H Willemsen
Brain
Brain, 142, 1, pp. 80-92
Brain : a journal of neurology, Vol. 142, no. 1, p. 80-92 (2019)
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A, Lesca, G, Lemke, J R, GRIN2A study group & Møller, R S 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80-92 . https://doi.org/10.1093/brain/awy304
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A & Lesca, G & Lemke, J R 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80–92 . https://doi.org/10.1093/brain/awy304
2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ' vol. 142, no. 1 . DOI: 10.1093/brain/awy304
Brain, 142, 1, pp. 80-92
Brain : a journal of neurology, Vol. 142, no. 1, p. 80-92 (2019)
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A, Lesca, G, Lemke, J R, GRIN2A study group & Møller, R S 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80-92 . https://doi.org/10.1093/brain/awy304
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A & Lesca, G & Lemke, J R 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80–92 . https://doi.org/10.1093/brain/awy304
2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ' vol. 142, no. 1 . DOI: 10.1093/brain/awy304
Academic Journal
Sina Renner; Helke Schüler; Malik Alawi; Verena Kolbe; Meike Rybczynski; Rixa Woitschach; Sara Sheikhzadeh; Veronika C. Stark; Jakob Olfe; Elke Roser; Friederike Sophia Seggewies; Adrian Mahlmann; Maja Hempel; Melanie J. Hartmann; Mathias Hillebrand; Dagmar Wieczorek; Alexander Erich Volk; Katja Kloth; Margarete Koch-Hogrebe; Rami Abou Jamra; Diana Mitter; Janine Altmüller; Alexandra Wey-Fabrizius; Christine Petersen; Isabella Rau; Guntram Borck; Christian Kubisch; Thomas S. Mir; Yskert von Kodolitsch; Kerstin Kutsche; Georg Rosenberger
Genetics in Medicine. 21:1832-1841
Academic Journal
Konrad Platzer; Benjamin Cogné; Jennifer Hague; Carlo L. Marcelis; Diana Mitter; Katrin Oberndorff; Soo‐Mi Park; Hans K. Ploos van Amstel; Ingrid Simonic; Jasper J. van der Smagt; Alexander P.A. Stegmann; Servi J.C. Stevens; Constance T.R.M. Stumpel; Marie Vincent; Johannes R. Lemke; Rami Jamra
Annals of Neurology, 84, 2, pp. 200-207
Academic Journal
Denise Horn; Eberhard Siebert; Ulrich Seidel; Imma Rost; Karin Mayer; Rami Abou Jamra; Diana Mitter; Uwe Kornak
American Journal of Medical Genetics Part A. 173:2534-2538
Academic Journal
Christine Neuhaus; Tobias Eisenberger; Christian Decker; Sandra Nagl; Cornelia Blank; Markus Pfister; Ingo Kennerknecht; Cornelie Müller-Hofstede; Peter Charbel Issa; Raoul Heller; Bodo Beck; Klaus Rüther; Diana Mitter; Klaus Rohrschneider; Ute Steinhauer; Heike M. Korbmacher; Dagmar Huhle; Solaf M. Elsayed; Hesham M. Taha; Shahid M. Baig; Heidi Stöhr; Markus Preising; Susanne Markus; Fabian Moeller; Birgit Lorenz; Kerstin Nagel-Wolfrum; Arif O. Khan; Hanno J. Bolz
Mol Genet Genomic Med
Academic Journal
Karim Kouz; Christina Lissewski; Stephanie Spranger; Diana Mitter; Angelika Riess; Vanesa Lopez-Gonzalez; Sabine Lüttgen; Hatip Aydin; Florian von Deimling; Christina Evers; Andreas Hahn; Maja Hempel; Ulrike Issa; Anne-Karin Kahlert; Adrian Lieb; Pablo Villavicencio-Lorini; Maria Juliana Ballesta-Martinez; Sheela Nampoothiri; Angela Ovens-Raeder; Alena Puchmajerová; Robin Satanovskij; Heide Seidel; Stephan Unkelbach; Bernhard Zabel; Kerstin Kutsche; Martin Zenker
Genetics in Medicine. 18:1226-1234
Academic Journal
Katrine M. Johannesen; Diana Mitter; Robert Janowski; Christian Roth; Joseph Toulouse; Anne-Lise Poulat; Dorothee M. Ville; Nicolas Chatron; Eva Brilstra; Karin Geleijns; Alfred Peter Born; Scott McLean; Kimberly Nugent; Gareth Baynam; Cathryn Poulton; Lauren Dreyer; Dylan Gration; Solveig Schulz; Andrea Dieckmann; Katherine L. Helbig; Andreas Merkenschlager; Rami Jamra; Anja Finck; Elena Gardella; Helle Hjalgrim; Ghayda Mirzaa; Francesco Brancati; Tatjana Bierhals; Jonas Denecke; Maja Hempel; Johannes R. Lemke; Guido Rubboli; Petra Muschke; Renzo Guerrini; Annalisa Vetro; Dierk Niessing; Gaetan Lesca; Rikke S. Møller
Neurol Genet
Johannesen, K M, Mitter, D, Janowski, R, Roth, C, Toulouse, J, Poulat, A-L, Ville, D M, Chatron, N, Brilstra, E, Geleijns, K, Born, A P, McLean, S, Nugent, K, Baynam, G, Poulton, C, Dreyer, L, Gration, D, Schulz, S, Dieckmann, A, Helbig, K L, Merkenschlager, A, Jamra, R, Finck, A, Gardella, E, Hjalgrim, H, Mirzaa, G, Brancati, F, Bierhals, T, Denecke, J, Hempel, M, Lemke, J R, Rubboli, G, Muschke, P, Guerrini, R, Vetro, A, Niessing, D, Lesca, G & Møller, R S 2019, ' Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy ', Neurology: Genetics, vol. 5, no. 6, pp. e373 . https://doi.org/10.1212/NXG.0000000000000373
Neurol. Genet. 5:e373 (2019)
Johannesen, K M, Mitter, D, Janowski, R, Roth, C, Toulouse, J, Poulat, A-L, Ville, D M, Chatron, N, Brilstra, E, Geleijns, K, Born, A P, McLean, S, Nugent, K, Baynam, G, Poulton, C, Dreyer, L, Gration, D, Schulz, S, Dieckmann, A, Helbig, K L, Merkenschlager, A, Jamra, R, Finck, A, Gardella, E, Hjalgrim, H, Mirzaa, G, Brancati, F, Bierhals, T, Denecke, J, Hempel, M, Lemke, J R, Rubboli, G, Muschke, P, Guerrini, R, Vetro, A, Niessing, D, Lesca, G & Møller, R S 2019, ' Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy ', Neurology: Genetics, vol. 5, no. 6, pp. e373 . https://doi.org/10.1212/NXG.0000000000000373
Neurol. Genet. 5:e373 (2019)
Academic Journal
Silke Schilling; Corinna Gebauer; Matthias Knüpfer; Ferdinand Pulzer; Annett Bläser; Diana Mitter; Wolfram Heinritz; Walter Pernice; Franz Wolfgang Hirsch; Ulrich Thome
pädiatrie: Kinder- und Jugendmedizin hautnah. 26:106-108
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