Research & Innovation
Publications

Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.

#2021

#GENETICS IN MEDICINE

PMU Authors
Saskia Wortmann, René Feichtinger, Celina von Stülpnagel, Johannes A. Mayr

All Authors
Saskia Wortmann, Szymon Ziętkiewicz, Sergio Guerrero-Castillo, René Feichtinger, Matias Wagner, Jacqui Russell, Carolyn Ellaway, Dagmara Mróz, Hubert Wyszkowski, Denisa Weis, Iris Hannibal, Celina von Stülpnagel, Alfredo Cabrera-Orefice, Uta Lichter-Konecki, Jenna Gaesser, Randy Windreich, Kasiani C Myers, Robert Lorsbach, Russell C Dale, Søren Gersting, Carlos E Prada, John Christodoulou, Nicole I Wolf, Hanka Venselaar, Johannes A. Mayr, Ron A Wevers

Journal association
GENETICS IN MEDICINE

Abstract

Keywords

PROTEIN, MUTATIONS, DOMAIN, SUBSTRATE, HSP104

Latest Publication

#2026

#Original Article

Dana Macejova, Jakub Kollar, Zdenek Dvorak, Daniela Schuster, Julius Brtko Tributyltin propionate and tributyltin salicylate represent novel RXR ligands, Retinoid X receptor ligands; Thyroid hormone receptors; Transcriptional activity; Tributyltin propionate; Tributyltin salicylate; Vitamin D(3)receptor;

#2026

#Book

Günter Schiepek, Helmut Schöller, Clemens Fartacek, Wolfgang Aichhorn, Alexander Schorb Human Dynamics in Psychotherapy and Related Fields

#2026

#Original Article

Alexander Schorb, Nadine Purrer, Peter Seidinger, Johanna Roßmann, Linda Mantovani, Simon Kohl, Wolfgang Aichhorn, Helmut Schöller, Günter Schiepek Validation of the Sports Process Quetionaire (SPQ) for monitoring the mental health of athletes and load control using the Synergetic Navigation System (SNS)

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Paracelsus Medical University (PMU) Research & Innovation Publications

Neutropenia and intellectual disability are...