Research & Innovation
Publications

Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.

#2008

#PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

PMU Authors
Silvia Dossena, Charity Nofziger, Markus Paulmichl

All Authors
Alejandra Pera, Silvia Dossena, Simona Rodighiero, Marta Gandía, Guido Bottà, Giuliano Meyer, Felipe Moreno, Charity Nofziger, Concepción Hernández-Chico, Markus Paulmichl

Journal association
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Abstract

Keywords

PROTEIN, MUTATIONS, ENLARGED VESTIBULAR AQUEDUCT, HEARING-LOSS, PDS GENE, IODIDE EFFLUX, INTRAFAMILIAL VARIABILITY, APICAL PORTER, 2 FAMILIES, DEAFNESS

Latest Publication

#2025

#Abstract

Valentin Fischill-Neudeck, Antje van der Zee-Neuen, Margitta B. Beil-Hildebrand Strengthening Professional Health Literacy: A Theory-Based Approach to Empower Nursing Practice

#2025

#Original Article

Margaux Delporte, Johan Verbeeck, Isabella Brambilla, Georg Zimmermann, Geert Molenberghs, Rima Nabbout, Dravet syndrome, REGISTRY; RARE DISEASES; DRAVET SYNDROME; Natural history;

#2025

#Short comment / notes

J. Koch, K. Steinbruecker, G. Kluger, S. Knasmueller, E. Trinka Successful use of fenfluramine in drug resistant epileptic encephalopathy with spike-wave activation in sleep (EE-SWAS)- an automated EEG study, EPILEPSY; Drug Resistance; Automated spike detection;

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Paracelsus Medical University (PMU) Research & Innovation Publications

Functional assessment of allelic variants in the...