檢索結果 - Inga Talvik

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  1. 1
    Prevalence of Childhood Epilepsy in Estonia

    Prevalence of Childhood Epilepsy in Estonia 由 Anneli Beilmann, Aita Napa, Anu Sööt, Inga Talvik, Tiina Talvik

    出版 1999
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  2. 2
    Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia

    Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia 由 Sanna Puusepp, Karit Reinson, Sander Pajusalu, Ülle Murumets, Eve Õiglane‐Shlik, Reet Rein, Inga Talvik, Richard J. Rodenburg, Katrin Õunap

    出版 2018
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  3. 3
    Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation

    Linkage-specific deubiquitylation by OTUD5 defines an embryonic pathway intolerant to genomic variation 由 David B. Beck, Mohammed A. Basar, Anthony J. Asmar, Joyce J. Thompson, Hirotsugu Oda, Daniela Tiaki Uehara, Ken Saida, Sander Pajusalu, Inga Talvik, Precilla D’Souza, Joann Bodurtha, Weiyi Mu, Kristin Barañano, Noriko Miyake, Raymond Wang, Marlies Kempers, Tomoko Tamada, Yutaka Nishimura, Satoshi Okada, Tomoki Kosho, Ryan Dale, Apratim Mitra, Ellen F. Macnamara, Naomichi Matsumoto, Johji Inazawa, Magdalena Walkiewicz, Katrin Õunap, Cynthia J. Tifft, Ivona Aksentijevich, Daniel L. Kastner, Pedro P. Rocha, Achim Werner

    出版 2021
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  4. 4
    Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

    Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies 由 Rikke S. Møller, Line H.G. Larsen, Katrine M. Johannesen, Inga Talvik, Tiina Talvik, Ulvi Vaher, María J. Miranda, Muhammad Farooq, Jens Erik Nielsen, Lene Lavard Svendsen, Ditte B. Kjelgaard, Karen Markussen Linnet, Qin Hao, Peter Uldall, Mimoza Frangu, Niels Tommerup, Shahid Mahmood Baig, Uzma Abdullah, Alfred Peter Born, Pia Gellert, Marina Nikanorova, Kern Olofsson, Birgit Jepsen, Dragan Marjanović, Lana I.K. Al-Zehhawi, Sofia J. Peñalva, B Krag-Olsen, Klaus Brusgaard, Helle Hjalgrim, Guido Rubboli, Deb K. Pal, Hans A. Dahl

    出版 2016
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  5. 5
    Mutations in <i>GABRB3</i>

    Mutations in <i>GABRB3</i> 由 Rikke S. Møller, Thomas V. Wuttke, Ingo Helbig, Carla Marini, Katrine M. Johannesen, Eva H. Brilstra, Ulvi Vaher, Ingo Borggraefe, Inga Talvik, Tiina Talvik, Gerhard Kluger, Laurence Lion François, Gaëtan Lesca, Julitta de Bellescize, Susanne Blichfeldt, Nicolas Chatron, Nils Holert, Julia Jacobs, Mariëlle E.M. Swinkels, Cornelia Betzler, Steffen Syrbe, Marina Nikanorova, Candace T. Myers, Line H.G. Larsen, Sabina Vejzovic, Manuela Pendziwiat, Sarah von Spiczak, Sarah Hopkins, Holly Dubbs, Yuan Mang, К. Yu. Мukhin, Hans Holthausen, Koen L.I. van Gassen, Hans A. Dahl, Niels Tommerup, Heather C. Mefford, Guido Rubboli, Renzo Guerrini, Johannes R. Lemke, Holger Lerche, Hiltrud Muhle, Snezana Maljevic

    出版 2017
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  6. 6
    Phenotypic spectrum of <i>GABRA1</i>

    Phenotypic spectrum of <i>GABRA1</i> 由 Katrine M. Johannesen, Carla Marini, Siona Pfeffer, Rikke S. Møller, Thomas Dorn, Cristina Elena Niturad, Elena Gardella, Yvonne G. Weber, Marianne Søndergård, Helle Hjalgrim, Mariana Nikanorova, Felicitas Becker, Line H.G. Larsen, Hans A. Dahl, Oliver Maier, Davide Mei, Saskia Biskup, Karl Martin Klein, Philipp S. Reif, Felix Rosenow, Abdallah F. Elias, Cindy Hudson, Katherine L. Helbig, Susanne Schubert‐Bast, Maria Rosaria Scordo, Dana Craiu, Tania Djémié, Dorota Hoffman‐Zacharska, Hande Çağlayan, Ingo Helbig, José M. Serratosa, Pasquale Striano, Peter De Jonghe, Sarah Weckhuysen, Arvid Suls, Kai Muru, Inga Talvik, Tiina Talvik, Hiltrud Muhle, Ingo Borggraefe, Imma Rost, Renzo Guerrini, Holger Lerche, Johannes R. Lemke, Guido Rubboli, Snezana Maljevic

    出版 2016
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  7. 7
    De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

    De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome 由 Arvid Suls, Johanna A. Jaehn, Angéla Kecskés, Yvonne G. Weber, Sarah Weckhuysen, Dana Craiu, Aleksandra Siekierska, Tania Djémié, Tatiana Afrikanova, Padhraig Gormley, Sarah von Spiczak, Gerhard Kluger, Catrinel Iliescu, Tiina Talvik, Inga Talvik, Cihan Meral, Hande Çağlayan, Beatriz G. Giráldez, José M. Serratosa, Johannes R. Lemke, Dorota Hoffman‐Zacharska, Elżbieta Szczepanik, Nina Barišić, Vladimı́r Komárek, Helle Hjalgrim, Rikke S. Møller, Tarja Linnankivi, Petia Dimova, Pasquale Striano, Federico Zara, Carla Marini, Renzo Guerrini, Christel Depienne, Stéphanie Baulac, Gregor Kuhlenbäumer, Alexander D. Crawford, Anna‐Elina Lehesjoki, Peter de Witte, Aarno Palotie, Holger Lerche, Camila V. Esguerra, Peter De Jonghe, Ingo Helbig, Rik Hendrickx, Philip Holmgren, Ulrich Stephani, Hiltrud Muhle, Manuela Pendiziwiat, Silke Appenzeller, Kaja Kristine Selmer, Eva H. Brilstra, Bobby P.C. Koeleman, Felix Rosenow, Eric LeGuern, Katalin Štěrbová, Budisteanu Magdalena, Gherghiceanu Rodica, Oana Tarta Arsene, Barca Diana, Rosa Guerrero, Laura Ortega, Албена Тодорова, Andrey Kirov, Angela Robbiano, Mutluay Arslan, Uluç Yiş, Vanja Ivanović

    出版 2013
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  8. 8
    The landscape of epilepsy-related GATOR1 variants

    The landscape of epilepsy-related GATOR1 variants 由 Sara Baldassari, Fabienne Picard, Nienke E. Verbeek, Marjan van Kempen, Eva H. Brilstra, Gaëtan Lesca, Valerio Conti, Renzo Guerrini, Francesca Bisulli, Laura Licchetta, Tommaso Pippucci, Paolo Tinuper, Édouard Hirsch, Anne de Saint Martin, Jamel Chelly, Gabrielle Rudolf, Mathilde Chipaux, Sarah Ferrand‐Sorbets, Georg Dorfmüller, Sanjay M. Sisodiya, Simona Balestrini, Natasha E. Schoeler, Laura Hernandez‐Hernandez, S. Krithika, Renske Oegema, Eveline Hagebeuk, Boudewijn Gunning, C. L. P. Deckers, Bianca Berghuis, Ilse Wegner, Erik H. Niks, Floor E. Jansen, Kees P. J. Braun, Daniëlle de Jong, Guido Rubboli, Inga Talvik, Valentin Sander, Peter Uldall, M. Jacquemont, Caroline Nava, Eric LeGuern, Sophie Julia, Antonio Gambardella, G. D’Orsi, Giovanni Crichiutti, Laurence Faivre, Véronique Darmency, Barbora Beňová, Pavel Kršek, Arnaud Biraben, Anne-Sophie Lebre, Mélanie Jennesson, Shifteh Sattar, Cécile Marchal, Douglas R. Nordli, Kristin Lindstrom, Pasquale Striano, Lysa Boissé Lomax, Courtney Kiss, Fabrice Bartoloméi, Anne Lépine, An-Sofie Schoonjans, Katrien Stouffs, Anna Jansen, Eleni Panagiotakaki, Brigitte Ricard‐Mousnier, Julien Thévenon, Julitta de Bellescize, Hélène Catenoix, Thomas Dorn, Martin Zenker, Karen Müller‐Schlüter, Christian Brandt, Ilona Krey, Tilman Polster, Markus Wolff, Meral Balci, Kevin Rostásy, Guillaume Achaz, Pia Zacher, Thomas Becher, Thomas Cloppenborg, Christopher J. Yuskaitis, Sarah Weckhuysen, Annapurna Poduri, Johannes R. Lemke, Rikke S. Møller, Stéphanie Baulac

    出版 2018
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