학술논문
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'학술논문'
에서 검색결과 18건 | 목록
1~20
Academic Journal
Molecular Genetics & Genomic Medicine, Vol 11, Iss 7, Pp n/a-n/a (2023)
Academic Journal
Henrik Stranneheim; Kristina Lagerstedt-Robinson; Måns Magnusson; Malin Kvarnung; Daniel Nilsson; Nicole Lesko; Martin Engvall; Britt-Marie Anderlid; Henrik Arnell; Carolina Backman Johansson; Michela Barbaro; Erik Björck; Helene Bruhn; Jesper Eisfeldt; Christoph Freyer; Giedre Grigelioniene; Peter Gustavsson; Anna Hammarsjö; Maritta Hellström-Pigg; Erik Iwarsson; Anders Jemt; Mikael Laaksonen; Sara Lind Enoksson; Helena Malmgren; Karin Naess; Magnus Nordenskjöld; Mikael Oscarson; Maria Pettersson; Chiara Rasi; Adam Rosenbaum; Ellika Sahlin; Eliane Sardh; Tommy Stödberg; Bianca Tesi; Emma Tham; Håkan Thonberg; Virpi Töhönen; Ulrika von Döbeln; Daphne Vassiliou; Sofie Vonlanthen; Ann-Charlotte Wikström; Josephine Wincent; Ola Winqvist; Anna Wredenberg; Sofia Ygberg; Rolf H. Zetterström; Per Marits; Maria Johansson Soller; Ann Nordgren; Valtteri Wirta; Anna Lindstrand; Anna Wedell
Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)
Academic Journal
Frontiers in Pediatrics, Vol 10 (2022)
Academic Journal
Kristian Vestergaard Jensen; Maria Frid; Tommy Stödberg; Michela Barbaro; Anna Wedell; Mette Christensen; Mads Bak; Jakob Ek; Camilla Gøbel Madsen; Niklas Darin; Sabine Grønborg
JIMD Reports, Vol 50, Iss 1, Pp 1-8 (2019)
Academic Journal
Olivia J. Henry; Sofia Ygberg; Michela Barbaro; Nicole Lesko; Leif Karlsson; Lucía Peña‐Pérez; Ann Båvner; Virpi Töhönen; Anna Lindstrand; Tommy Stödberg; Anna Wedell
Epilepsia
Academic Journal
Kimberly A Chapman; Farid Ullah; Zachary A Yahiku; Sheraz Khan; Sri Varsha Kodiparthi; Georgios Kellaris; Hazel G. White; Andrew T. Powell; Sandrina P Correia; Tommy Stödberg; Christalena Sofokleous; Nikolaos M Marinakis; Helena Fryssira; Eirini Tsoutsou; Jan Traeger-Synodinos; Andrea Accogli; Vittorio Sciruicchio; Vincenzo Salpietro; Pasquale Striano; Candace Muss; Boris Keren; Delphine Heron; Seth I Berger; Kelvin W Pond; Suman Sirimulla; Erica E Davis; Martha RC Bhattacharya
medRxiv
Am J Hum Genet
Am J Hum Genet
Academic Journal
Anna Lindstrand; Kristina Lagerstedt-Robinson; Anders Jemt; Malin Kvarnung; Sofia Ygberg; Sofie Vonlanthen; Mikael Oscarson; Daniel Nilsson; Nicole Lesko; Angelo Salazar Mantero; Britt Marie Anderlid; Henrik Arnell; Cecilia Arthur; Svetlana Bajalica Lagercrantz; Michela Barbaro; Peter Bergman; Erik Björck; Oda Blomqvist Picard; Helene Bruhn; Jonas Carlsten; Sandrina P. Correia; Karl De Geer; Angelica Delgado Vega; Emma Ehn; Jesper Eisfeldt; Marlene Ek; Ingegerd Elvers; Martin Engvall; Christoph Freyer; Sofia Frisk; Caroline Graff; Giedré Grigelioniené; Peter Gustafsson; Anna Hammarsjö; Hafdis T. Helgadottir; Maritta Hellström Pigg; Olivia J Henry; Moa Hägglund; Erik Iwarsson; Vincent Janvid; Maria Johansson Soller; Leif Karlsson; Ekaterina Kuchinskaya; Anders Kämpe; Anna Leinfelt; Agne Liedén; Hillevi Lindelöf; Anna Lyander; Helena Malmgren; Maria Mannila; Per Marits; Karin Naess; Ramprasad Neethiraj; Karl Nyren; Christoforos Pappas; Martin Paucar Arce; Nadja Pekkola Pacheco; Lucia Peña Perez; Maria Pettersson; Peter Pruisscher; Chiara Rasi; Annick Renevey; Sophia Rössner; Ellika Sahlin; Erik Stenund; Tommy Stödberg; Mikael Sundin; Karl Svärd; Bianca Tesi; Emma Tham; Håkan Thonberg; Virpi Töhönen; Malin Ueberschär; Karin Wallander; Eini Westenius; Johanna Winberg; Nerges Winblad; Josephine Wincent; Malin Winerdal; Anna Wredenberg; Anna Zetterlund; Rolf Zetterström; Ingegerd Öfverholm; Ann Nordgren; Henrik Stranneheim; Valtteri Wirta; Anna Wedell
Academic Journal
Nicolai Kohring Tvergaard; Tinatin Tkemaladze; Tommy Stödberg; Malin Kvarnung; Katrina Tatton‐Brown; Diana Baralle; Zeynep Tümer; Allan Bayat
Tvergaard, N K, Tkemaladze, T, Stödberg, T, Kvarnung, M, Tatton-Brown, K, Baralle, D, Tümer, Z & Bayat, A 2024, ' Unraveling GRIA1 neurodevelopmental disorders : Lessons learned from the p.(Ala636Thr) variant ', Clinical Genetics, vol. 106, no. 4, pp. 427-436 . https://doi.org/10.1111/cge.14577
Academic Journal
The Journal of Pediatrics. 282:114593
Academic Journal
Mariagrazia Talarico; Julitta de Bellescize; Matthias De Wachter; Xavier Le Guillou; Guylène Le Meur; Matthieu Egloff; Bertrand Isidor; Benjamin Cogné; Diane Beysen; Paul Rollier; Melanie Fradin; Laurent Pasquier; Ilaria Guella; Scott E. Hickey; Paul J. Benke; Amelle Shillington; Candy Kumps; Olivier Vanakker; Erica H. Gerkes; Shenela Lakhani; Irina Romanova; Ilya Kanivets; Melanie Brugger; Katharina Vill; Raymond C. Caylor; Cindy Skinner; Rory J. Tinker; Tommy Stödberg; Astrid Nümann; Tobias B. Haack; Natalie Deininger; Holger Hengel; Jeanne Jury; Solène Conrad; Sandra Mercier; Grace Yoon; Melissa Tsuboyama; Giulia Barcia; Cyril Gitiaux; Marlène Rio; Andrea Bevot; Sylvia Redon; Kevin Uguen; Antje Wonneberger; Alexander Schulz; Dagmar Timmann; Danielle Hays Karlowicz; Nicolas Chatron; Amanda Carnevale; Sonal Mahida; Katrin Õunap; Sébastien Kury; Sara Cabet; Gaetan Lesca
Genetics in medicine
GENETICS IN MEDICINE
GENETICS IN MEDICINE
Academic Journal
Chiara Klöckner; Heinrich Sticht; Pia Zacher; Bernt Popp; Holly E. Babcock; Dewi P. Bakker; Katy Barwick; Michaela V. Bonfert; Carsten G. Bönnemann; Eva H. Brilstra; Wendy K. Chung; Angus J. Clarke; Patrick Devine; Sandra Donkervoort; Jamie L. Fraser; Jennifer Friedman; Alyssa Gates; Jamal Ghoumid; Emma Hobson; Gabriella Horvath; Jennifer Keller-Ramey; Boris Keren; Manju A. Kurian; Virgina Lee; Kathleen A. Leppig; Johan Lundgren; Marie T. McDonald; Heather M. McLaughlin; Amy McTague; Heather C. Mefford; Cyril Mignot; Mohamad A. Mikati; Caroline Nava; F. Lucy Raymond; Julian R. Sampson; Alba Sanchis-Juan; Vandana Shashi; Joseph T.C. Shieh; Marwan Shinawi; Anne Slavotinek; Tommy Stödberg; Nicholas Stong; Jennifer A. Sullivan; Ashley C. Taylor; Tomi L. Toler; Marie-José van den Boogaard; Saskia N. van der Crabben; Koen L.I. van Gassen; Richard H. van Jaarsveld; Jessica Van Ziffle; Alexandrea F. Wadley; Matias Wagner; Kristen Wigby; Saskia B. Wortmann; Yuri A. Zarate; Rikke S. Møller; Johannes R. Lemke; Konrad Platzer
Care4Rare Canada Consortium 2021, 'De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy', Genetics in Medicine, vol. 23, no. 4, pp. 653-660. https://doi.org/10.1038/s41436-020-01020-w
Klöckner, C, Sticht, H, Zacher, P, Popp, B, Babcock, H E, Bakker, D P, Barwick, K, Bonfert, M V, Bönnemann, C G, Brilstra, E H, Chung, W K, Clarke, A J, Devine, P, Donkervoort, S, Fraser, J L, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, M A, Lee, V, Leppig, K A, Lundgren, J, McDonald, M T, McTague, A, Mefford, H C, Mignot, C, Mikati, M A, Nava, C, Raymond, F L, Sampson, J R, Sanchis-Juan, A, Shashi, V, Shieh, J T C, Shinawi, M, Slavotinek, A, Stödberg, T, Stong, N, Sullivan, J A, Taylor, A C, Toler, T L, van den Boogaard, M J, van der Crabben, S N, van Gassen, K L I, van Jaarsveld, R H, Van Ziffle, J, Møller, R S & Care4Rare Canada Consortium 2021, ' De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy ', Genetics in Medicine, vol. 23, no. 4, pp. 653-660 . https://doi.org/10.1038/s41436-020-01020-w
Klöckner, C, Sticht, H, Zacher, P, Popp, B, Babcock, H E, Bakker, D P, Barwick, K, Bonfert, M V, Bönnemann, C G, Brilstra, E H, Chung, W K, Clarke, A J, Devine, P, Donkervoort, S, Fraser, J L, Friedman, J, Gates, A, Ghoumid, J, Hobson, E, Horvath, G, Keller-Ramey, J, Keren, B, Kurian, M A, Lee, V, Leppig, K A, Lundgren, J, McDonald, M T, McTague, A, Mefford, H C, Mignot, C, Mikati, M A, Nava, C, Raymond, F L, Sampson, J R, Sanchis-Juan, A, Shashi, V, Shieh, J T C, Shinawi, M, Slavotinek, A, Stödberg, T, Stong, N, Sullivan, J A, Taylor, A C, Toler, T L, van den Boogaard, M J, van der Crabben, S N, van Gassen, K L I, van Jaarsveld, R H, Van Ziffle, J, Møller, R S & Care4Rare Canada Consortium 2021, ' De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy ', Genetics in Medicine, vol. 23, no. 4, pp. 653-660 . https://doi.org/10.1038/s41436-020-01020-w
Academic Journal
Tommy Stödberg; Torbjörn Tomson; Michela Barbaro; Henrik Stranneheim; Britt‐Marie Anderlid; Sofia Carlsson; Per Åmark; Anna Wedell
Epilepsia
Academic Journal
Matthew P. Wilson; Emma J. Footitt; Apostolos Papandreou; Mari-Liis Uudelepp; Ronit Pressler; Danielle C. Stevenson; Camila Gabriel; Mel McSweeney; Matthew Baggot; Derek Burke; Tommy Stödberg; Kate Riney; Manuel Schiff; Simon J. R. Heales; Kevin A. Mills; Paul Gissen; Peter T. Clayton; Philippa B. Mills
Anal Chem
Academic Journal
Annika Danielsson; Britt‐Marie Anderlid; Tommy Stödberg; Kristina Lagerstedt‐Robinson; Eva Klackenberg Arrhenius; Kristina Tedroff
Developmental Medicine & Child Neurology. 60:1251-1255
Academic Journal
Mominul Islam; Karin Westin; Ana Carvalho; Mats Eriksson; Mikael Lundvall; Tommy Stödberg; Cecilia Adelöw; Daniel Lundqvist; Lau M. Andersen; Brian Nils Lundstrom; Gerald Cooray
Brain Stimulation. 12:1312-1314
Academic Journal
Tommy Stödberg; Amy McTague; Arnaud J. Ruiz; Hiromi Hirata; Juan Zhen; Philip Long; Irene Farabella; Esther Meyer; Atsuo Kawahara; Grace Vassallo; Stavros M. Stivaros; Magnus K. Bjursell
Nature, Nature Communications. 6(1):1-9
Book
Acute Pediatric Neurology ISBN: 9780857294906
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