檢索結果 - Petra Laššuthová
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Characterization of molecular mechanisms underlying the axonal Charcot–Marie–Tooth neuropathy caused by MORC2 mutations 由 Paula Sancho, Luca Bartesaghi, Olivia Miossec, Francisco García‐García, Laura Ramírez‐Jiménez, Anna Siddell, Elisabet Åkesson, Eva Hedlund, Petra Laššuthová, Samuel Ignacio Pascual Pascual, Teresa Sevilla, Marina Kennerson, Vincenzo Lupo, Roman Chrast, Carmen Espinós
出版 2019Artigo -
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Loss of function mutations in<i>HARS</i>cause a spectrum of inherited peripheral neuropathies 由 Dana Šafka Brožková, Tine Deconinck, Laurie B. Griffin, A. Ferbert, Jana Haberlová, Radim Mazanec, Petra Laššuthová, Christian Roth, Thanita Pilunthanakul, Bernd Rautenstrauß, Andreas Janecke, Petra Zavadáková, Roman Chrast, Carlo Rivolta, Stephan Züchner, Anthony Antonellis, Asim A. Beg, Peter De Jonghe, Jan Senderek, Pavel Seeman, Jonathan Baets
出版 2015Artigo -
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Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2 由 Petra Laššuthová, Adriana Rebelo, Gianina Ravenscroft, Phillipa J. Lamont, Mark R. Davis, Fiore Manganelli, Shawna Feely, Chelsea Bacon, Dana Šafka Brožková, Jana Haberlová, Radim Mazanec, Feifei Tao, Cima Saghira, Lisa Abreu, Steve Courel, Eric Powell, Elena Buglo, Dana M. Bis‐Brewer, Megan F. Baxter, Royston Ong, Lorna Marns, Yi‐Chung Lee, Yunhong Bai, Daniel G. Isom, René Barro-Soria, Ki Wha Chung, Steven S. Scherer, H. Peter Larsson, Nigel G. Laing, Byung‐Ok Choi, Pavel Seeman, Michael E. Shy, Lucio Santoro, Stephan Züchner
出版 2018Artigo -
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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature 由 Margot R.F. Reijnders, Robert Janowski, Mohsan Alvi, Jay Self, Ton J van Essen, Maaike Vreeburg, Rob P.W. Rouhl, Servi J.C. Stevens, Alexander P.A. Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric J. Smeets, Connie T. R. M. Stumpel, Levinus A. Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate Chandler, Sofia Douzgou, Nicola Cooper, Ene‐Choo Tan, Roger Foo, Angeline Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene S. Ruhoy, Karen S. Carvalho, James J. Dowling, Dorit Lev, Katalin Štěrbová, Petra Laššuthová, Jana Neupauerová, Jeff L. Waugh, Sotirios Keros, Jill Clayton‐Smith, Sarah Smithson, Han G. Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E. Clowes, Victoria Mok Siu, the DDD study, Paulo Selber, Richard J. Leventer, Christoffer Nellåker, Dierk Niessing, David Hunt, Diana Baralle
出版 2017Revisão -
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<i>HCN1</i>mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond 由 Carla Marini, Alessandro Porro, Agnès Rastetter, Carine Dalle, Ilaria Rivolta, Daniel Bauer, Renske Oegema, Caroline Nava, Elena Parrini, Davide Mei, Catherine Mercer, Radhika Dhamija, Chelsea Chambers, Christine Coubes, Julien Thévenon, Paul Kuentz, Sophie Julia, Laurent Pasquier, Christèle Dubourg, Wilfrid Carré, Anna Rosati, Federico Melani, Tiziana Pisano, Maria Giardino, A. Micheil Innes, Yves Alembik, Sophie Scheidecker, Manuela M. Santos, Sónia Figueiroa, Cristina Garrido, Carlo Fusco, Daniele Frattini, Carlotta Spagnoli, Anna Binda, Tiziana Granata, Francesca Ragona, Elena Freri, Silvana Franceschetti, Laura Canafoglia, Barbara Castellotti, Cinzia Gellera, Raffaella Milanesi, Maria Margherita Mancardi, Damien R Clark, Fernando Kok, Katherine L. Helbig, Shoji Ichikawa, Laurie S. Sadler, Jana Neupauerová, Petra Laššuthová, Katalin Štěrbová, Annick Laridon, Eva H. Brilstra, Bobby P.C. Koeleman, Johannes R. Lemke, Federico Zara, Pasquale Striano, Julie Soblet, Guillaume Smits, Nicolas Deconinck, Andrea Barbuti, Dario DiFrancesco, Eric LeGuern, Renzo Guerrini, Bina Santoro, Kay Hamacher, Gerhard Thiel, Anna Moroni, Jacopo C. DiFrancesco, Christel Depienne
出版 2018Artigo -
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients 由 Cyril Mignot, Aoife McMahon, Claire Bar, Philippe M. Campeau, Claire Davidson, Julien Buratti, Caroline Nava, Marie‐Line Jacquemont, Marilyn Tallot, Mathieu Milh, Patrick Edery, Pauline Marzin, Giulia Barcia, Christine Barnérias, Claude Besmond, Thierry Bienvenu, Ange-Line Bruel, Ledia Brunga, Berten Ceulemans, Christine Coubes, Ana G. Cristancho, Fiona Cunningham, Marie-Bertille Dehouck, Elizabeth Donner, Bénédicte Duban‐Bedu, Christèle Dubourg, Elena Gardella, Julie Gauthier, David Geneviève, Stéphanie Gobin‐Limballe, Ethan M. Goldberg, Eveline Hagebeuk, Fadi F. Hamdan, Miroslava Hančárová, Laurence Hubert, Christine Ioos, Shoji Ichikawa, Sandra Janssens, Hubert Journel, Anna Kaminśka, Boris Keren, Marion Koopmans, Caroline Lacoste, Petra Laššuthová, Damien Lederer, Daphné Lehalle, Dragan Marjanović, Julia Métreau, Jacques L Michaud, Kathryn Miller, Berge A. Minassian, Joannella Morales, Marie‐Laure Moutard, Arnold Munnich, Xilma R. Ortiz‐González, Jean-Marc Pinard, Darina Prchalová, Audrey Putoux, Chloé Quēlin, Alyssa Rosen, J. Roume, Elsa Rossignol, Marleen Simon, Thomas Smol, Natasha Shur, Ivan Shelihan, Katalin Štěrbová, Emílie Vyhnálková, Catheline Vilain, Julie Soblet, Guillaume Smits, Samuel Yang, Jasper J. van der Smagt, Peter M. van Hasselt, Marjan van Kempen, Sarah Weckhuysen, Ingo Helbig, Laurent Villard, Delphine Héron, Bobby P.C. Koeleman, Rikke S. Møller, Gaëtan Lesca, Katherine L. Helbig, Rima Nabbout, Nienke E. Verbeek, Christel Depienne
出版 2018Artigo -
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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies 由 Annette Lischka, Katja Eggermann, Christopher J. Record, Maike F. Dohrn, Petra Laššuthová, Florian Kraft, Matthias Begemann, Daniela Dey, Thomas Eggermann, Danique Beijer, Jana Šoukalová, Matilde Laurá, Alexander M. Rossor, Radim Mazanec, Jonas Van Lent, Pedro José Tomaselli, Martin Ungelenk, Karlien Debus, Shawna Feely, Dieter Gläser, Sujatha Jagadeesh, Madelena Martin, Geeta Govindaraj, Pratibha Singhi, Revanth Baineni, Niranjan Biswal, Marisol Ibarra‐Ramírez, M Bonduelle, Burkhard Gess, Juan Romero Sánchez, Renu Suthar, Vrajesh Udani, Atchayaram Nalini, Gopikrishnan Unnikrishnan, Wilson Marques, Sandra Mercier, Vincent Procaccio, Céline Bris, Beena Suresh, Vaishnavi Reddy, Mariola Skorupinska, Nathalie Bonello‐Palot, Fanny Mochel, Georg Dahl, Karthika Sasidharan, Fiji Madona Devassikutty, Sheela Nampoothiri, Maria Juliana R. Doriqui, Wolfgang Müller‐Felber, Katharina Vill, Tobias B. Haack, Andreas Dufke, Michael Abele, Rolf Stucka, Saima Siddiqi, Noor Ullah, Stephanie Spranger, Deborah Chiabrando, Behiye Bolgül, Yeşim Parman, Pavel Seeman, Angelika Lampert, Jörg B. Schulz, John N. Wood, James J. Cox, Michaela Auer‐Grumbach, Vincent Timmerman, Jonathan De Winter, Andreas C. Themistocleous, Michael E. Shy, David Bennett, Jonathan Baets, Christian A. Hübner, Enrico Leipold, Stephan Züchner, Miriam Elbracht, Arman Çakar, Jan Senderek, Thorsten Hornemann, C. Geoffrey Woods, Mary M. Reilly, Ingo Kurth
出版 2023Artigo -
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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD 由 Andrea Cortese, Maike F. Dohrn, Riccardo Currò, Sara Negri, Petra Laššuthová, Chiara Pisciotta, Stefano Tozza, Abdullah Al‐Ajmi, Changyoung Feng, Pedro José Tomaselli, Gorka Fernández‐Eulate, S. Haddad, Matilde Laurà, Alexander M. Rossor, Elisa Vegezzi, Stefano Facchini, James N. Sleigh, Adriana Rebelo, Danique Beijer, Jacquelyn Raposo, Mario Saporta, Barbora Lauerová, Helena F. Pernice, Pascal Achenbach, Ulrike Schöne, Tayir Alon, Marcus Deschauer, Isabell Cordts, Carolin D. Obermaier, Natalie Winter, Peter D. Creigh, Janet E. Sowden, Tyler Rehbein, Stefania Magri, Alessandro Bertini, Paola Saveri, Paolo Ripellino, Jingyu Huang, Aleksandra Nadaj-Pakleza, Alison Ross, James Holt, Kathryn M. Brennan, Rivka Sukenik‐Halevy, Varoona Bizaoui, Yeşim Parman, Esra Battaloğlu, Arman Çakar, Hadil Alrohaif, Simon Hammans, Kishore R. Kumar, Marina Kennerson, Hülya Kayserili, Defne A. Amado, Katrin Hahn, Paola Valentino, Francesca Cavalcanti, Carlo Gaetano, Franco Taroni, Geir J. Braathen, Henry Houlden, Tanya Stojkovic, Stojan Peric, Alessandra Bolino, Stefano C. Previtali, Yi‐Chung Lee, A. Nazlı Başak, Sherifa A. Hamed, Ricardo Rojas‐García, Tanya Stojkovic, Wilson Marques, Teresa Sevilla, Beate Schlotter‐Weigel, Fiore Manganelli, Ruxu Zhang, David N. Herrmann, Steven S. Scherer, Pavel Seeman, Davide Pareyson, Mary M. Reilly, Michael E. Shy, Stephan Züchner
出版 2025Artigo -
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Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals 由 Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Erin L. Heinzen, Ryan S. Dhindsa, Kate E. Stanley, Gianpiero L. Cavalleri, Hákon Hákonarson, Ingo Helbig, Roland Krause, Patrick May, Sarah Weckhuysen, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Patrick Kwan, Anthony G Marson, Randy Stewart, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Kevin E. McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Caitlin A. Bennett, Esther M.C. Johns, Alexandra MacDonald, Hannah Shilling, Rosemary Burgess, Sarah Weckhuysen, Melanie Bahlo, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Tara Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Wolfram S. Kunz, Gábor Zsurka, Christian E. Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller‐Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Christian Hengsbach, Sarah Rau, Ana F. Maisch, Bernhard J. Steinhoff, Andreas Schulze‐Bonhage, Susanne Schubert‐Bast, Herbert Schreiber, Ingo Borggräfe
出版 2019Artigo -
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Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects 由 Lisa‐Marie Niestroj, Eduardo Pérez‐Palma, Daniel P. Howrigan, Yadi Zhou, Feixiong Cheng, Elmo Saarentaus, Peter Nürnberg, Remi Stevelink, Mark J. Daly, Aarno Palotie, Dennis Lal, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Dennis Lal, Tracy Air, Namrata Gupta, Benjamin M. Neale, Samuel F. Berkovic, Holger Lerche, David B. Goldstein, Daniel H. Lowenstein, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. McKenna, Brigid M. Regan, Susannah T. Bellows, Costin Leu, Brigid M. Regan, Caitlin A. Bennett, Susannah T. Bellows, Esther C Johns, Alexandra MacDonald, Hannah Shilling, Rosemary Burgess, Sarah Weckhuysen, Melanie Bahlo, Terence J. O’Brien, Patrick Kwan, Slavé Petrovski, Marian Todaro, Sarah Weckhuysen, Hannah Stamberger, Peter De Jonghe, Chantal Depondt, Danielle M. Andrade, Tara Sadoway, Kelly Mo, Heinz Krestel, Sabina Gallati, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Wolfram S. Kunz, Gábor Zsurka, Christian E. Elger, Jürgen Bauer, Michael Rademacher, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann
出版 2020Artigo -
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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 由 Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara Sadoway, Heinz Krestel, André Schaller, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Yiolanda Christou, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Fritz Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Gábor Zsurka, Rainer Surges, Tobias Baumgartner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Müller‐Schlüter, Gerhard Kluger, Martin Häusler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian M. Boßelmann, Josua Kegele
出版 2021Artigo -
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Genotype-phenotype correlations in <i>SCN8A</i>-related disorders reveal prognostic and therapeutic implications 由 Katrine M. Johannesen, Yuanyuan Liu, Mahmoud Koko, Cathrine E. Gjerulfsen, Lukas Sonnenberg, Julian Schubert, Christina Fenger, Ahmed Eltokhi, Maert Rannap, Nils A. Koch, Stephan Lauxmann, Johanna Krüger, Josua Kegele, Laura Canafoglia, Silvana Franceschetti, Patrick May, Johannes Rebstock, Pia Zacher, Susanne Ruf, Michael Alber, Katalin Štěrbová, Petra Laššuthová, Markéta Vlčková, Johannes R. Lemke, Konrad Platzer, Ilona Krey, Constanze Heine, Dagmar Wieczorek, Judith Kroell-Seger, Caroline Lund, Karl Martin Klein, P Y Billie Au, Jong M. Rho, Alice Ho, Silvia Masnada, Pierangelo Veggiotti, Lucio Giordano, Patrizia Accorsi, Christina Engel Hoei‐Hansen, Pasquale Striano, Federico Zara, Hélène Verhelst, J. Verhoeven, Hilde M. H. Braakman, Bert van der Zwaag, Aster V. E. Harder, Eva H. Brilstra, Manuela Pendziwiat, Sebastian Lebon, María Vaccarezza, Ngọc Minh Lê, Jakob Christensen, Sabine Grønborg, Stephen W. Scherer, Jennifer Howe, Walid Fazeli, Katherine B. Howell, Richard J. Leventer, Chloe Stutterd, Sonja Walsh, Marion Gérard, Bénédicte Gérard, Sara Matricardi, Claudia Bonardi, Stefano Sartori, Andrea Berger, Dorota Hoffman‐Zacharska, Massimo Mastrangelo, Francesca Darra, Arve Vøllo, M. Mahdi Motazacker, Phillis Lakeman, Mathilde Nizon, Cornelia Betzler, Cécilia Altuzarra, Roseline Caume, Agathe Roubertie, Philippe Gélisse, Carla Marini, Renzo Guerrini, Frédéric Bilan, Daniel Tibussek, Margarete Koch‐Hogrebe, Μ. Scott Perry, Shoji Ichikawa, Е. Л. Дадали, Artem Sharkov, Irina Mishina, M. O. Abramov, Ilya Kanivets, С. А. Коростелев, Sergey I. Kutsev, Karen E. Wain, Nancy Eisenhauer, Monisa Wagner, Juliann M. Savatt, Karen Müller‐Schlüter, Haim Bassan, Artem Borovikov, Marie‐Cécile Nassogne
出版 2021Artigo -
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Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 由 Ludovica Montanucci, David Lewis‐Smith, Ryan L. Collins, Lisa‐Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H. Thomas, Michael E. Talkowski, Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Allen, David B. Goldstein, Yen‐Chen Anne Feng, Daniel P. Howrigan, Liam Abbott, Katherine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon‐Salazar, Renzo Guerrini, Hákon Hákonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G Marson, Slavé Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin E. McKenna, Brigid M. Regan, Caitlin A. Bennett, Stephanie L. Leech, Costin Leu, David Lewis‐Smith, Terence J. O’Brien, Marian Todaro, Hannah Stamberger, Chantal Depondti, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara Sadoway, Heinz Krestel, André Schaller, Savvas Papacostas, Ioanna Kousiappa, George A. Tanteles, Christou Yiolanda, Katalin Štěrbová, Markéta Vlčková, Lucie Sedláčková, Petra Laššuthová, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Fritz Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Gábor Zsurka, Rainer Surges, Tobias H. Baumgartner, Randi von Wrede, Ingo Helbig, Manuela Pendziwiat, Hiltrud Muhle, Annika Rademacher, Andreas van Baalen, Sarah von Spiczak
出版 2023Artigo
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Biology
Gene
Genetics
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Phenotype
Neuroscience
Bioinformatics
Epilepsy
Internal medicine
Copy-number variation
Disease
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Genotype
Missense mutation
Mutation
Epilepsy syndromes
Exome
Exome sequencing
Diabetes mellitus
Encephalopathy
Endocrinology
Generalized epilepsy
Genetic heterogeneity
Genetic testing
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Peripheral neuropathy
Psychiatry
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