Hasil Pencarian - Birgit Stallmeyer

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  1. 1
    Gain‐of‐function mutation in TASK‐4 channels and severe cardiac conduction disorder

    Gain‐of‐function mutation in TASK‐4 channels and severe cardiac conduction disorder oleh Corinna Friedrich, Susanne Rinné, Sven Zumhagen, Aytug K Kiper, Nicole Silbernagel, Michael F Netter, Birgit Stallmeyer, Eric Schulze‐Bahr, Niels Decher

    Diterbitkan 2014-06-01
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  2. 2
    A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.

    A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of... oleh Sven Zumhagen, Marieke W Veldkamp, Birgit Stallmeyer, Antonius Baartscheer, Lars Eckardt, Matthias Paul, Carol Ann Remme, Zahurul A Bhuiyan, Connie R Bezzina, Eric Schulze-Bahr

    Diterbitkan 2013-01-01
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  3. 3
    Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene <i>CACNA1D</i> Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy

    Whole Exome Sequencing Identifies a Heterozygous Variant in the Cav1.3 Gene <i>CACNA1D</i> Associated with Familial Sinus Node Dysfunction and Focal Idiopathic Epilepsy oleh Susanne Rinné, Birgit Stallmeyer, Alexandra Pinggera, Michael F. Netter, Lina A. Matschke, Sven Dittmann, Uwe Kirchhefer, Ulrich Neudorf, Joachim Opp, Jörg Striessnig, Niels Decher, Eric Schulze-Bahr

    Diterbitkan 2022-11-01
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  4. 4
    DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia

    DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia oleh Ann-Kristin Dicke, Adrian Pilatz, Margot J. Wyrwoll, Margus Punab, Christian Ruckert, Liina Nagirnaja, Kenneth I. Aston, Donald F. Conrad, Sara Di Persio, Nina Neuhaus, Daniela Fietz, Maris Laan, Birgit Stallmeyer, Frank Tüttelmann

    Diterbitkan 2023-03-01
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  5. 5
    Sodium permeable and “hypersensitive” TREK‐1 channels cause ventricular tachycardia

    Sodium permeable and “hypersensitive” TREK‐1 channels cause ventricular tachycardia oleh Niels Decher, Beatriz Ortiz‐Bonnin, Corinna Friedrich, Marcus Schewe, Aytug K Kiper, Susanne Rinné, Gunnar Seemann, Rémi Peyronnet, Sven Zumhagen, Daniel Bustos, Jens Kockskämper, Peter Kohl, Steffen Just, Wendy González, Thomas Baukrowitz, Birgit Stallmeyer, Eric Schulze‐Bahr

    Diterbitkan 2017-02-01
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  6. 6
    New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel <i>CACNA1C</i> Loss-of-Function Mutation

    New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel <i>CACNA1C</i> Loss-of-Function Mutation oleh Dominique Endres, Niels Decher, Isabell Röhr, Kirsty Vowinkel, Katharina Domschke, Katalin Komlosi, Andreas Tzschach, Birgitta Gläser, Miriam A. Schiele, Kimon Runge, Patrick Süß, Florian Schuchardt, Kathrin Nickel, Birgit Stallmeyer, Susanne Rinné, Eric Schulze-Bahr, Ludger Tebartz van Elst

    Diterbitkan 2020-11-01
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  7. 7
    Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T)

    Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T) oleh Ina Rothenberg, PhD, Ilaria Piccini, PhD, Eva Wrobel, PhD, Birgit Stallmeyer, PhD, Jovanca Müller, MD, Boris Greber, PhD, Nathalie Strutz-Seebohm, PhD, Eric Schulze-Bahr, MD, Nicole Schmitt, PhD, Guiscard Seebohm, PhD

    Diterbitkan 2016-11-01
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  8. 8
    Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility

    Inherited defects of piRNA biogenesis cause transposon de-repression, impaired spermatogenesis, and human male infertility oleh Birgit Stallmeyer, Clara Bühlmann, Rytis Stakaitis, Ann-Kristin Dicke, Farah Ghieh, Luisa Meier, Ansgar Zoch, David MacKenzie MacLeod, Johanna Steingröver, Özlem Okutman, Daniela Fietz, Adrian Pilatz, Antoni Riera-Escamilla, Miguel J. Xavier, Christian Ruckert, Sara Di Persio, Nina Neuhaus, Ali Sami Gurbuz, Ahmet Şalvarci, Nicolas Le May, Kevin McEleny, Corinna Friedrich, Godfried van der Heijden, Margot J. Wyrwoll, Sabine Kliesch, Joris A. Veltman, Csilla Krausz, Stéphane Viville, Donald F. Conrad, Dónal O’Carroll, Frank Tüttelmann

    Diterbitkan 2024-08-01
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