Showing 1 - 5 results of 5 for search 'Birgit Stallmeyer', query time: 0.03s
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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... by 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
Published 2013-01-01
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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 by 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
Published 2022-11-01
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DDX3Y is likely the key spermatogenic factor in the AZFa region that contributes to human non-obstructive azoospermia by 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
Published 2023-03-01
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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 by 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
Published 2020-11-01
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Structural interplay of KV7.1 and KCNE1 is essential for normal repolarization and is compromised in short QT syndrome 2 (KV7.1-A287T) by 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
Published 2016-11-01
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