Resultats de la cerca - Oana Tarta Arsene
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1
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature per Juliette Piard, Lara Hawkes, Mathieu Milh, Laurent Villard, Renato Borgatti, Romina Romaniello, Mélanie Fradin, Yline Capri, Delphine Héron, Marie‐Christine Nouguès, Caroline Nava, Oana Tarta Arsene, Debbie Shears, John Taylor, Alistair T. Pagnamenta, Jenny C. Taylor, Yoshimi Sogawa, Diana Johnson, Helen V. Firth, Pradeep Vasudevan, Gabriela Jones, Marie-Ange Nguyen-Morel, Tiffany Busa, Agathe Roubertie, Myrthe van den Born, Elise Brischoux‐Boucher, M. Kœnig, Cyril Mignot, Usha Kini, Christophe Philippe
Publicat 2018Revisão -
2
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly per Katia Hardies, Patrick May, Tania Djémié, Oana Tarța-Arsene, Tine Deconinck, Dana Craiu, Ingo Helbig, Arvid Suls, Rudi Balling, Sarah Weckhuysen, Peter De Jonghe, Jennifer Hirst, Zaid Afawi, Nina Barišić, Stéphanie Baulac, Hande Çağlayan, Christel Depienne, Carolien G. F. de Kovel, Petia Dimova, Rosa Guerrero, Renzo Guerrini, Helle Hjalgrim, Dorota Hoffman‐Zacharska, Johanna Jähn, Karl Martin Klein, Bobby P.C. Koeleman, Eric Leguern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Holger Lerche, Carla Marini, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Rikke S. Møller, Ulrich Stephani, Pasquale Striano, Tiina Talvik, Sarah von Spiczak, Yvonne G. Weber, Federico Zara
Publicat 2014Artigo -
3
Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country‐, center‐, and age‐specific variation per Carmen Barba, J. Helen Cross, Kees P. J. Braun, Massimo Cossu, Kerstin Alexandra Klotz, Salvatore De Masi, María Ángeles Pérez Jiménez, Eija Gaily, Nicola Specchio, Pedro Cabral, Joseph Toulouse, Petia Dimova, Domenica Battaglia, Elena Freri, Alessandro Consales, Elisabetta Cesaroni, Oana Tarța-Arsene, António Gil‐Nagel, Ioana Mı̂ndruță, Giancarlo Di Gennaro, Marco Giulioni, Martin Tisdall, Christin Eltze, Muhammad Zubair Tahir, Floor E. Jansen, Peter van Rijen, Maurits Sanders, Laura Tassi, Stefano Francione, Giorgio Lo Russo, Julia Jacobs, Thomas Bast, Giulia Matta, Marcelo Budke, Concepción Fournier del Castillo, Eeva‐Liisa Metsähonkala, Atte Karppinen, José C. Ferreira, Krasimir Minkin, Carlo Efisio Marras, Alexis Arzimanoglou, Renzo Guerrini
Publicat 2019Artigo -
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Current use of imaging and electromagnetic source localization procedures in epilepsy surgery centers across Europe per Brian E. Mouthaan, Matea Rados, Péter Barsi, Paul Boon, David W. Carmichael, Evelien Carrette, Dana Craiu, J. Helen Cross, Beate Diehl, Petia Dimova, Dániel Fabó, Stefano Francione, Vladislav Gaskin, António Gil‐Nagel, Елена Владимировна Григорьева, Alla Guekht, Édouard Hirsch, Hrvoje Hečimović, Christoph Helmstaedter, Julien Jung, Reetta Kälviäinen, Anna Kelemen, Vasilios Κ. Kimiskidis, Teia Kobulashvili, Pavel Kršek, Giorgi Kuchukhidze, Pål G. Larsson, Markus Leitinger, Morten I. Lossius, Р В Лузин, Kristina Malmgren, Rūta Mameniškienė, Petr Marusič, Barış Metin, Çiğdem Özkara, Hrvoje Ivan Pećina, Carlos Martínez Quesada, Fergus Rugg‐Gunn, Bertil Rydenhag, Philippe Ryvlin, Julia Scholly, Margitta Seeck, Anke M. Staack, Bernhard J. Steinhoff, В. Н. Степанов, Oana Tarța-Arsene, Eugen Trinka, Mustafa Uzan, Viola Lara Vogt, Sjoerd B. Vos, Serge Vulliémoz, Geertjan Huiskamp, Frans S.S. Leijten, Pieter van Eijsden, Kees P. J. Braun
Publicat 2016Artigo -
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Current standards of neuropsychological assessment in epilepsy surgery centers across Europe per Viola Lara Vogt, Marja Äikiä, Antonio del Barrio, Paul Boon, Csaba Borbély, Ema Bran, Kees P. J. Braun, Evelien Carette, Maria Clark, J. Helen Cross, Petia Dimova, Dániel Fabó, Nikolaos Foroglou, Stefano Francione, Anna Gersamia, António Gil‐Nagel, Alla Guekht, Sue Harrison, Hrvoje Hečimović, Einar Heminghyt, Édouard Hirsch, Alena Javůrková, Reetta Kälviäinen, Nicole Kavan, Anna Kelemen, Vasilios Κ. Kimiskidis, Margarita Kirschner, Catherine Kleitz, Teia Kobulashvili, Mary H. Kosmidis, Selin Yağcı Kurtish, Mathieu Lesourd, Sofia Ljunggren, Morten I. Lossius, Kristina Malmgren, Rūta Mameniškienė, Patricia Martin‐Sanfilippo, Petr Marusič, Marijke Miatton, Çiğdem Özkara, Federica Pelle, Guido Rubboli, Sarah R. Rudebeck, Philippe Ryvlin, Monique van Schooneveld, Elisabeth Schmid, Pia‐Magdalena Schmidt, Margitta Seeck, Bernhard J. Steinhoff, Sara Shavel‐Jessop, Oana Tarța-Arsene, Eugen Trinka, Gerd Viggedal, Anne‐Sophie Wendling, Juri‐Alexander Witt, Christoph Helmstaedter
Publicat 2017Artigo -
6
De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome per 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
Publicat 2013Artigo
Eines de cerca:
Matèries relacionades
Medicine
Psychiatry
Epilepsy
Biology
Epilepsy surgery
Gene
Genetics
Phenotype
Loss function
Anxiety
Astrophysics
Bioinformatics
Cancer
Center (category theory)
Cerebral palsy
Chemistry
Clinical psychology
Cognition
Comparative genomic hybridization
Compound heterozygosity
Crystallography
DNA sequencing
Dravet syndrome
Dystonia
Electroencephalography
Encephalopathy
Exome sequencing
Exon
Genome
Hereditary spastic paraplegia