Hasil Pencarian - Bernd A Neubauer

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  1. 1
    KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.

    KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. oleh Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand

    Diterbitkan 2018-01-01
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  2. 2
    Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.

    Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing. oleh Dennis Lal, Bernd A Neubauer, Mohammad R Toliat, Janine Altmüller, Holger Thiele, Peter Nürnberg, Clemens Kamrath, Anne Schänzer, Thomas Sander, Andreas Hahn, Michael Nothnagel

    Diterbitkan 2016-01-01
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  3. 3
    Correction: and Mutations in Rolandic Epilepsy.

    Correction: and Mutations in Rolandic Epilepsy. oleh Dennis Lal, Eva M. Reinthaler, Janine Altmüller, Mohammad R. Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S. Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A. Neubauer

    Diterbitkan 2013-01-01
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  4. 4
    RBFOX1 and RBFOX3 mutations in rolandic epilepsy.

    RBFOX1 and RBFOX3 mutations in rolandic epilepsy. oleh Dennis Lal, Eva M Reinthaler, Janine Altmüller, Mohammad R Toliat, Holger Thiele, Peter Nürnberg, Holger Lerche, Andreas Hahn, Rikke S Møller, Hiltrud Muhle, Thomas Sander, Fritz Zimprich, Bernd A Neubauer

    Diterbitkan 2013-01-01
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  5. 5
    Multidimensional assessment of infant, parent and staff outcomes during a family centered care enhancement project in a tertiary neonatal intensive care unit: study protocol of a longitudinal cohort study

    Multidimensional assessment of infant, parent and staff outcomes during a family centered care enhancement project in a tertiary neonatal intensive care unit: study protocol of a l... oleh Rahel Schuler, Lea Woitschitzky, Carola Eiben, Judith Beck, Alena Jägers, Anita Windhorst, Birgit Kampschulte, Jutta Petzinger, Markus Waitz, Monique Oude Reimer-van Kilsdonk, Bernd A. Neubauer, Klaus-Peter Zimmer, Harald Ehrhardt, Burkhard Brosig, Walter A. Mihatsch

    Diterbitkan 2023-07-01
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  6. 6
    Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

    Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy oleh Borislav Dejanovic, Dennis Lal, Claudia B. Catarino, Sita Arjune, Abdel A. Belaidi, Holger Trucks, Christian Vollmar, Rainer Surges, Wolfram S. Kunz, Susanne Motameny, Janine Altmüller, Anna Köhler, Bernd A. Neubauer, EPICURE Consortium, Peter Nürnberg, Soheyl Noachtar, Günter Schwarz, Thomas Sander

    Diterbitkan 2014-07-01
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  7. 7
    Exploring the relationships between composite scores of disease severity, seizure-freedom and quality of life in Dravet syndrome

    Exploring the relationships between composite scores of disease severity, seizure-freedom and quality of life in Dravet syndrome oleh Adam Strzelczyk, Gerhard Kurlemann, Thomas Bast, Ulrich Bettendorf, Gerhard Kluger, Thomas Mayer, Bernd A. Neubauer, Tilman Polster, Sarah von Spiczak, Regina Trollmann, Markus Wolff, Toby Toward, Jens Gruenert, Eddie Gibson, Clive Pritchard, Joe Carroll, Felix Rosenow, Susanne Schubert-Bast

    Diterbitkan 2022-06-01
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  8. 8
    Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany

    Sleep quality, anxiety, symptoms of depression, and caregiver burden among those caring for patients with Dravet syndrome: a prospective multicenter study in Germany oleh Margarita Maltseva, Susanne Schubert-Bast, Johann Philipp Zöllner, Thomas Bast, Thomas Mayer, Sarah von Spiczak, Susanne Ruf, Regina Trollmann, Markus Wolff, Frauke Hornemann, Kerstin A. Klotz, Julia Jacobs, Gerhard Kurlemann, Bernd A. Neubauer, Tilman Polster, Steffen Syrbe, Astrid Bertsche, Ulrich Bettendorf, Gerhard Kluger, Silke Flege, Felix Rosenow, Lara Kay, Adam Strzelczyk

    Diterbitkan 2023-04-01
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  9. 9
    Rare gene deletions in genetic generalized and Rolandic epilepsies.

    Rare gene deletions in genetic generalized and Rolandic epilepsies. oleh Kamel Jabbari, Dheeraj R Bobbili, Dennis Lal, Eva M Reinthaler, Julian Schubert, Stefan Wolking, Vishal Sinha, Susanne Motameny, Holger Thiele, Amit Kawalia, Janine Altmüller, Mohammad Reza Toliat, Robert Kraaij, Jeroen van Rooij, André G Uitterlinden, M Arfan Ikram, EuroEPINOMICS CoGIE Consortium, Federico Zara, Anna-Elina Lehesjoki, Roland Krause, Fritz Zimprich, Thomas Sander, Bernd A Neubauer, Patrick May, Holger Lerche, Peter Nürnberg

    Diterbitkan 2018-01-01
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  10. 10
    Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

    Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders oleh Dennis Lal, Patrick May, Eduardo Perez-Palma, Kaitlin E. Samocha, Jack A. Kosmicki, Elise B. Robinson, Rikke S. Møller, Roland Krause, Peter Nürnberg, Sarah Weckhuysen, Peter De Jonghe, Renzo Guerrini, Lisa M. Niestroj, Juliana Du, Carla Marini, EuroEPINOMICS-RES Consortium, James S. Ware, Mitja Kurki, Padhraig Gormley, Sha Tang, Sitao Wu, Saskia Biskup, Annapurna Poduri, Bernd A. Neubauer, Bobby P. C. Koeleman, Katherine L. Helbig, Yvonne G. Weber, Ingo Helbig, Amit R. Majithia, Aarno Palotie, Mark J. Daly

    Diterbitkan 2020-03-01
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  11. 11
    Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes.

    Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes. oleh Dennis Lal, Eva M Reinthaler, Borislav Dejanovic, Patrick May, Holger Thiele, Anna-Elina Lehesjoki, Günter Schwarz, Erik Riesch, M Arfan Ikram, Cornelia M van Duijn, Andre G Uitterlinden, Albert Hofman, Hannelore Steinböck, Ursula Gruber-Sedlmayr, Birgit Neophytou, Federico Zara, Andreas Hahn, Genetic Commission of the Italian League against Epilepsy, EuroEPINOMICS CoGIE Consortium, Padhraig Gormley, Felicitas Becker, Yvonne G Weber, Maria Roberta Cilio, Wolfram S Kunz, Roland Krause, Fritz Zimprich, Johannes R Lemke, Peter Nürnberg, Thomas Sander, Holger Lerche, Bernd A Neubauer

    Diterbitkan 2016-01-01
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  12. 12
    Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies.

    Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies. oleh Dennis Lal, Ann-Kathrin Ruppert, Holger Trucks, Herbert Schulz, Carolien G de Kovel, Dorothée Kasteleijn-Nolst Trenité, Anja C M Sonsma, Bobby P Koeleman, Dick Lindhout, Yvonne G Weber, Holger Lerche, Claudia Kapser, Christoph J Schankin, Wolfram S Kunz, Rainer Surges, Christian E Elger, Verena Gaus, Bettina Schmitz, Ingo Helbig, Hiltrud Muhle, Ulrich Stephani, Karl M Klein, Felix Rosenow, Bernd A Neubauer, Eva M Reinthaler, Fritz Zimprich, Martha Feucht, Rikke S Møller, Helle Hjalgrim, Peter De Jonghe, Arvid Suls, Wolfgang Lieb, Andre Franke, Konstantin Strauch, Christian Gieger, Claudia Schurmann, Ulf Schminke, Peter Nürnberg, EPICURE Consortium, Thomas Sander

    Diterbitkan 2015-05-01
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