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A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype–phenotype correlation by Marketa Vlckova, Darina Prchalova, Pavel Zimmermann, Jana Haberlova, Sarka Bendova, Veronika Moslerova, Viktor Stranecky, Zdenek Sedlacek, Miroslava Hancarova
Published 2023-06-01
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Decreased quality of life in Duchenne muscular disease patients related to functional neurological and cardiac impairment by Lenka Juříková, Lucia Masárová, Roman Panovský, Roman Panovský, Martin Pešl, Martin Pešl, Martin Pešl, Kamila Žondra Revendová, Kamila Žondra Revendová, Ondřej Volný, Ondřej Volný, Ondřej Volný, Věra Feitová, Věra Feitová, Tomaš Holeček, Tomaš Holeček, Tomaš Holeček, Vladimír Kincl, Vladimír Kincl, Pavlína Danhofer, Stanislav Voháňka, Jana Haberlová, Karolína Podolská
Published 2024-02-01
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EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders by Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, Peter A. C. ’t Hoen, Dimitrios Athanasiou, Suzie-Ann Baker, Paraskevi Sakellariou, Georgios Paliouras, Carla D’Angelo, Rita Horvath, Michelangelo Mancuso, Nadine van der Beek, Cornelia Kornblum, Janbernd Kirschner, Davide Pareyson, Guillaume Bassez, Laura Blacas, Maxime Jacoupy, Catherine Eng, François Lamy, Jean-Philippe Plançon, Jana Haberlova, Esther Brusse, Janneke G. J. Hoeijmakers, Marianne de Visser, Kristl G. Claeys, Carmen Paradas, Antonio Toscano, Vincenzo Silani, Melinda Gyenge, Evy Reviers, Dalil Hamroun, Elisabeth Vroom, Mark D. Wilkinson, Hanns Lochmuller, Teresinha Evangelista
Published 2024-02-01
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