Risultati della ricerca - Marjan J. A. van Kempen

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  1. 1
    Prevalence of SCN1A-Related Dravet Syndrome among Children Reported with Seizures following Vaccination: A Population-Based Ten-Year Cohort Study

    Prevalence of SCN1A-Related Dravet Syndrome among Children Reported with Seizures following Vaccination: A Population-Based Ten-Year Cohort Study di Nienke E. Verbeek, Nicoline van der Maas, Floor E. Jansen, Marjan J. A. van Kempen, Dick Lindhout, Eva H. Brilstra

    Pubblicazione 2013
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  2. 2
    Developmental changes of connexin40 and connexin43 mRNA distribution patterns in the rat heart

    Developmental changes of connexin40 and connexin43 mRNA distribution patterns in the rat heart di Marjan J. A. van Kempen, Jacqueline L.M. Vermeulen, Antoon F.M. Moorman, Daniel Gros, David L. Paul, W.H. Lamers

    Pubblicazione 1996
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  3. 3
    Heart Defects in Connexin43-Deficient Mice

    Heart Defects in Connexin43-Deficient Mice di Jing Ya, Erna B.H.W. Erdtsieck-Ernste, Piet A. J. de Boer, Marjan J. A. van Kempen, Habo J. Jongsma, Daniel Gros, Antoon F.M. Moorman, Wouter H. Lamers

    Pubblicazione 1998
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  4. 4
    Nav1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome

    Nav1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome di Linda Volkers, Kristopher M. Kahlig, Nienke E. Verbeek, Joost H.G. Das, Marjan J. A. van Kempen, Hans Stroink, Paul B. Augustijn, Onno van Nieuwenhuizen, Dick Lindhout, Alfred L. George, Bobby P.C. Koeleman, Martin B. Rook

    Pubblicazione 2011
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  5. 5
    Endothelial-Specific Deletion of Connexin40 Promotes Atherosclerosis by Increasing CD73-Dependent Leukocyte Adhesion

    Endothelial-Specific Deletion of Connexin40 Promotes Atherosclerosis by Increasing CD73-Dependent Leukocyte Adhesion di Christos Chadjichristos, K.E. Ludwig Scheckenbach, Toon A.B. van Veen, M.Z. Richani Sarieddine, Cor de Wit, Zhihong Yang, Isabelle Roth, Matthew Bacchetta, Hema Viswambharan, Bernard Foglia, Tecla Dudez, Marjan J. A. van Kempen, Frank E. J. Coenjaerts, Lucile Miquerol, Urban Deutsch, Habo J. Jongsma, Marc Chanson, Brenda R. Kwak

    Pubblicazione 2009
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  6. 6
    Male patients affected by mosaic PCDH19 mutations: five new cases

    Male patients affected by mosaic PCDH19 mutations: five new cases di Iris Lange, Patrick Rump, Rinze F. Neuteboom, Paul B. Augustijn, K. Hodges, A. I. Kistemaker, Oebele F. Brouwer, Grazia M.S. Mancini, Hadas Newman, Yvonne J. Vos, Katherine L. Helbig, Cacha Peeters‐Scholte, Marjolein Kriek, N. Knoers, Dick Lindhout, Bobby P.C. Koeleman, Marjan J. A. van Kempen, Eva H. Brilstra

    Pubblicazione 2017
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  7. 7
    Mosaicism of de novo pathogenic <i><scp>SCN</scp>1A</i> variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes

    Mosaicism of de novo pathogenic <i><scp>SCN</scp>1A</i> variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes di Iris Lange, Marco J. Koudijs, Ruben van ‘t Slot, Boudewijn Gunning, Anja C. M. Sonsma, Lisette J. J. M. van Gemert, Flip Mulder, Ellen C. Carbo, Marjan J. A. van Kempen, Nienke E. Verbeek, Isaäc J. Nijman, Robert F. Ernst, Sanne M. C. Savelberg, Nine Knoers, Eva H. Brilstra, Bobby P.C. Koeleman

    Pubblicazione 2018
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  8. 8
    Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

    Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients di Carolien G. F. de Kovel, Eva H. Brilstra, Marjan J. A. van Kempen, Ruben van’t Slot, Isaäc J. Nijman, Zaid Afawi, Peter De Jonghe, Tania Djémié, Renzo Guerrini, Katia Hardies, Ingo Helbig, Rik Hendrickx, Moine Kanaan, Uri Kramer, Anna‐Elina Lehesjoki, Johannes R. Lemke, Carla Marini, Davide Mei, Rikke S. Møller, Manuela Pendziwiat, Hannah Stamberger, Arvid Suls, Sarah Weckhuysen, Bobby P.C. Koeleman

    Pubblicazione 2016
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  9. 9
    Mutations in <i><scp>KCNT</scp>1</i> cause a spectrum of focal epilepsies

    Mutations in <i><scp>KCNT</scp>1</i> cause a spectrum of focal epilepsies di Rikke S. Møller, Sarah E. Heron, Line H.G. Larsen, Chiao Xin Lim, Michael G. Ricos, Marta A. Bayly, Marjan J. A. van Kempen, Sylvia Klinkenberg, Ian Andrews, Kent R. Kelley, Gabriel M. Ronen, David Callen, Jacinta M. McMahon, Simone C. Yendle, Gemma L. Carvill, Heather C. Mefford, Rima Nabbout, Annapurna Poduri, Pasquale Striano, M. G. Baglietto, Federico Zara, Nicholas Smith, Clair Pridmore, Elena Gardella, Marina Nikanorova, Hans A. Dahl, Paul Gellert, Ingrid E. Scheffer, Boudewijn Gunning, Bente Kragh‐Olsen, Leanne M. Dibbens

    Pubblicazione 2015
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  10. 10
    Pitfalls in genetic testing: the story of missed <i>SCN1A</i> mutations

    Pitfalls in genetic testing: the story of missed <i>SCN1A</i> mutations di 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

    Pubblicazione 2016
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