Oral manifestations of Ehlers‐Danlos syndromes

por Lepperdinger, Ulrike, Zschocke, Johannes, Kapferer‐Seebacher, Ines
Publicado 2021

The genetic counseling profession in Austria: Stakeholders’ perspectives

por Schwaninger, Gunda, Benjamin, Caroline, Rudnik‐Schöneborn, Sabine, Zschocke, Johannes
Publicado 2021

Interleukin 1 blockade with canacinumab for hyperimmunoglobulin D and periodic fever syndrome

por Brunner, Juergen, Binder, Elisabeth, Karall, Daniela, Zschocke, Johannes, Fauth, Christine
Publicado 2014

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review

por KAPFERER-SEEBACHER, Ines, SCHNABL, Dagmar, ZSCHOCKE, Johannes, POPE, F. Michael
Publicado 2020

Response

por Vogi, Verena, Denicolò, Sara, Mayer, Gert, Zschocke, Johannes, Jukic, Emina
Publicado 2022

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye

por Pölsler, Laura, Schatz, Ulrich A., Simma, Burkhard, Zschocke, Johannes, Rudnik‐Schöneborn, Sabine
Publicado 2020

High risk of peri‐implant disease in periodontal Ehlers–Danlos Syndrome. A case series

por Rinner, Alexander, Zschocke, Johannes, Schossig, Anna, Gröbner, Rebekka, Strobl, Heinrich, Kapferer‐Seebacher, Ines
Publicado 2018

Long- and short-term fluctuations compared for several organ systems across sleep stages

por Zschocke, Johannes, Bartsch, Ronny P., Glos, Martin, Penzel, Thomas, Mikolajczyk , Rafael, Kantelhardt, Jan W.
Publicado 2022

Biochemical Characterization of AGMO Variants Implicated in Relapses in Visceral Leishmaniasis

por Watschinger, Katrin, Keller, Markus A, Golderer, Georg, Coassin, Stefan, Zschocke, Johannes, Werner, Ernst R
Publicado 2018

Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations

por Tavasoli, Ali Reza, Parvaneh, Nima, Ashrafi, Mahmoud Reza, Rezaei, Zahra, Zschocke, Johannes, Rostami, Parastoo
Publicado 2018

Genotype and phenotype variability in Sjögren‐Larsson syndrome

por Weustenfeld, Maximilian, Eidelpes, Reiner, Schmuth, Matthias, Rizzo, William B., Zschocke, Johannes, Keller, Markus A.
Publicado 2018

An exceptional Albanian family with seven children presenting with dysmorphic features and mental retardation: maternal phenylketonuria

por Knerr, Ina, Zschocke, Johannes, Schellmoser, Stefan, Topf, Hans G, Weigel, Corina, Dötsch, Jörg, Rascher, Wolfgang
Publicado 2005

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers–Danlos Syndrome

por Stock, Friedrich, Hanisch, Marcel, Lechner, Sarah, Biskup, Saskia, Bohring, Axel, Zschocke, Johannes, Kapferer-Seebacher, Ines
Publicado 2021

SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data

por Fischer, Maria, Snajder, Rene, Pabinger, Stephan, Dander, Andreas, Schossig, Anna, Zschocke, Johannes, Trajanoski, Zlatko, Stocker, Gernot
Publicado 2012

Recurrent Spontaneous Miscarriage: a Comparison of International Guidelines

por Vomstein, Kilian, Aulitzky, Anna, Strobel, Laura, Bohlmann, Michael, Feil, Katharina, Rudnik-Schöneborn, Sabine, Zschocke, Johannes, Toth, Bettina
Publicado 2021

panelcn.MOPS: Copy‐number detection in targeted NGS panel data for clinical diagnostics

por Povysil, Gundula, Tzika, Antigoni, Vogt, Julia, Haunschmid, Verena, Messiaen, Ludwine, Zschocke, Johannes, Klambauer, Günter, Hochreiter, Sepp, Wimmer, Katharina
Publicado 2017

Unequivocal Mapping of Molecular Ether Lipid Species by LC–MS/MS in Plasmalogen-Deficient Mice

por Koch, Jakob, Lackner, Katharina, Wohlfarter, Yvonne, Sailer, Sabrina, Zschocke, Johannes, Werner, Ernst R., Watschinger, Katrin, Keller, Markus A.
Publicado 2020

Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome

por Amberger, Albert, Pertoll, Johanna, Traunfellner, Pia, Kapferer-Seebacher, Ines, Stoiber, Heribert, Klimaschewski, Lars, Thielens, Nicole, Gaboriaud, Christine, Zschocke, Johannes
Publicado 2023

Membrane Sphingolipids Regulate the Fitness and Antifungal Protein Susceptibility of Neurospora crassa

por Huber, Anna, Oemer, Gregor, Malanovic, Nermina, Lohner, Karl, Kovács, Laura, Salvenmoser, Willi, Zschocke, Johannes, Keller, Markus A., Marx, Florentine
Publicado 2019

Formation of 3‐hydroxyglutaric acid in glutaric aciduria type I: in vitro participation of medium chain acyl‐CoA dehydrogenase

por Peters, Verena, Morath, Marina, Mack, Matthias, Liesert, Michael, Buckel, Wolfgang, Hoffmann, Georg F., Vockley, Jerry, Ghisla, Sandro, Zschocke, Johannes
Publicado 2019