نتائج البحث - Bridget H. Maher

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  1. 1
    Identification of molecular genetic factors that influence migraine

    Identification of molecular genetic factors that influence migraine حسب Bridget H. Maher, Lyn R. Griffiths

    منشور في 2011
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    Revisão
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  2. 2
    Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

    Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy حسب Costin Leu, Simona Balestrini, Bridget H. Maher, Laura Hernandez‐Hernandez, Padhraig Gormley, Eija Hämäläinen, Kristin Heggeli, Natasha E. Schoeler, Jan Nový, Joseph Willis, Vincent Plagnol, Rachael Ellis, Eleanor Reavey, Mary O’Regan, William Owen Pickrell, Rhys H. Thomas, Seo‐Kyung Chung, Norman Delanty, Jacinta M. McMahon, Stephen Malone, Lynette G. Sadleir, Samuel F. Berkovic, Lina Nashef, Sameer M. Zuberi, Mark I. Rees, Gianpiero L. Cavalleri, Josemir W. Sander, Elaine Hughes, J. Helen Cross, Ingrid E. Scheffer, Aarno Palotie, Sanjay M. Sisodiya

    منشور في 2015
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    Artigo
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  3. 3
    De novo mutations of<i>KIAA2022</i>in females cause intellectual disability and intractable epilepsy

    De novo mutations of<i>KIAA2022</i>in females cause intellectual disability and intractable epilepsy حسب Iris Lange, Katherine L. Helbig, Sarah Weckhuysen, Rikke S. Møller, Milen Velinov, Natalia Dolzhanskaya, Eric D. Marsh, Ingo Helbig, Orrin Devinsky, Sha Tang, Heather C Mefford, Candace T. Myers, Wim Van Paesschen, Pasquale Striano, Koen L.I. van Gassen, Marjan van Kempen, Carolien G. F. de Kovel, Juliette Piard, Berge A. Minassian, Marjan M. Nezarati, André Luiz Santos Pessoa, Aurélia Jacquette, Bridget H. Maher, Simona Balestrini, Sanjay M. Sisodiya, Marie Thérèse Abi Warde, Anne de Saint Martin, Jamel Chelly, Ruben van ‘t Slot, Lionel Van Maldergem, Eva H. Brilstra, Bobby P. C. Koeleman

    منشور في 2016
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    Artigo
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  4. 4
    DNM1 encephalopathy: A new disease of vesicle fission.

    DNM1 encephalopathy: A new disease of vesicle fission. حسب Sarah von Spiczak, Katherine L. Helbig, Deepali N. Shinde, Robert Huether, Manuela Pendziwiat, Charles Marques Lourenço, Mark E. Nuñes, Dean Sarco, Richard A. Kaplan, Dennis Dlugos, Heidi E. Kirsch, Anne Slavotinek, Maria Roberta Cilio, Mackenzie C. Cervenka, Julie S. Cohen, Rebecca McClellan, Ali Fatemi, Amy Wong Ten Yuen, Yoshimi Sagawa, Rebecca O. Littlejohn, Scott D. McLean, Laura Hernandez‐Hernandez, Bridget H. Maher, Rikke S. Møller, Elizabeth E. Palmer, John A. Lawson, Colleen A. Campbell, Charuta Joshi, Diana L. Kolbe, Georgie Hollingsworth, Bernd A. Neubauer, Hiltrud Muhle, Ulrich Stephani, Ingrid E. Scheffer, Sérgio D.J. Pena, Sanjay M. Sisodiya, Ingo Helbig

    منشور في 2017
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    Artigo
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  5. 5
    De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy حسب Steffen Syrbe, Ulrike B. S. Hedrich, Erik Riesch, Tania Djémié, Stephan A. Müller, Rikke S. Møller, Bridget H. Maher, Laura Hernandez‐Hernandez, Matthis Synofzik, Hande Çağlayan, Mutluay Arslan, José M. Serratosa, Michael Nothnagel, Patrick May, Roland Krause, H. Löffler, Katja Detert, Thomas Dorn, Heinrich Vogt, Günter Krämer, Lüdger Schöls, Primus E. Mullis, Tarja Linnankivi, Anna-Elina Lehesjoki, Katalin Štěrbová, Dana Craiu, Dorota Hoffman‐Zacharska, Christian Korff, Yvonne G. Weber, Maja Steinlin, Sabina Gallati, Astrid Bertsche, Matthias K. Bernhard, Andreas Merkenschlager, Wieland Kieß, Michael Gonzalez, Stephan Züchner, Aarno Palotie, Arvid Suls, Peter De Jonghe, Ingo Helbig, Saskia Biskup, Markus Wolff, Snezana Maljevic, Rebecca Schüle, Sanjay M. Sisodiya, Sarah Weckhuysen, Holger Lerche, Johannes R. Lemke

    منشور في 2015
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    Artigo
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  6. 6
    Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy

    Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy حسب Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Gaëtan Lesca, Agnès Rastetter, Benoît Gachet, Yannick Marie, Georg Christoph Korenke, Ingo Borggraefe, Dorota Hoffman‐Zacharska, Elżbieta Szczepanik, Mariola Rudzka‐Dybała, Uluç Yiş, Hande Çağlayan, Arnaud Isapof, Isabelle Marey, Eleni Panagiotakaki, Christian Korff, Eva Rossier, Angelika Rieß, Stefanie Beck‐Woedl, Anita Rauch, Christiane Zweier, Juliane Hoyer, André Reis, М. Б. Миронов, M. Yu. Bobylоva, К. Yu. Мukhin, Laura Hernandez‐Hernandez, Bridget H. Maher, Sanjay M. Sisodiya, Marius Kuhn, Dieter Glaeser, Sarah Weckhuysen, Candace T. Myers, Heather C. Mefford, Konstanze Hörtnagel, Saskia Biskup, Johannes R. Lemke, Delphine Héron, Gerhard Kluger, Christel Depienne

    منشور في 2016
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    Artigo
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