نتائج البحث - Beatriz G. Giráldez

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  1. 1
    Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

    Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes حسب Laura Ortega-Moreno, Beatriz G. Giráldez, Víctor Soto-Insuga, Rebeca Losada-Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero, José M. Serratosa

    منشور في 2017
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    Artigo
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  2. 2
    Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies

    Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies حسب Silvia Masnada, Ulrike B. S. Hedrich, Elena Gardella, Julian Schubert, Charu Kaiwar, Eric W. Klee, Brendan C. Lanpher, Ralitza H. Gavrilova, Matthis Synofzik, Thomas Bast, Kathleen M. Gorman, Mary D. King, Nicholas M. Allen, Judith Conroy, Bruria Ben Zeev, Michal Tzadok, Christian Korff, Fanny Dubois, Keri Ramsey, Vinodh Narayanan, José M. Serratosa, Beatriz G. Giráldez, Ingo Helbig, Eric D. Marsh, Margaret O’Brien, Christina A Bergqvist, Adrian Binelli, Brenda E. Porter, Eduardo José Bernardo Zaeyen, Dafne Dain Gandelman Horovitz, Markus Wolff, Dragan Marjanović, Hande Çağlayan, Mutluay Arslan, Sérgio D.J. Pena, Sanjay M. Sisodiya, Simona Balestrini, Steffen Syrbe, Pierangelo Veggiotti, Johannes R. Lemke, Rikke S. Møller, Holger Lerche, Guido Rubboli

    منشور في 2017
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  3. 3
    Pitfalls in genetic testing: the story of missed <i>SCN1A</i> mutations

    Pitfalls in genetic testing: the story of missed <i>SCN1A</i> mutations حسب Tania Djémié, Sarah Weckhuysen, Sarah von Spiczak, Gemma L. Carvill, Johanna A. Jaehn, Anna‐Kaisa Anttonen, Eva H. Brilstra, Hande Çağlayan, Carolien G. F. de Kovel, Christel Depienne, Eija Gaily, Elena Di Gennaro, Beatriz G. Giráldez, Padhraig Gormley, Rosa Guerrero, Renzo Guerrini, Eija Hämäläinen, Corinna Hartmann, Laura Hernandez‐Hernandez, Helle Hjalgrim, Bobby P.C. Koeleman, Eric LeGuern, Anna‐Elina Lehesjoki, Johannes R. Lemke, Costin Leu, Carla Marini, Jacinta M. McMahon, Davide Mei, Rikke S. Møller, Hiltrud Muhle, Candace T. Myers, Caroline Nava, José M. Serratosa, Sanjay M. Sisodiya, Ulrich Stephani, Pasquale Striano, Marjan J. A. van Kempen, Nienke E. Verbeek, Sunay Usluer, Federico Zara, Aarno Palotie, Heather C. Mefford, Ingrid E. Scheffer, Peter De Jonghe, Ingo Helbig, Arvid Suls

    منشور في 2016
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  4. 4
    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 حسب 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

    منشور في 2013
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