Ti.: “High” vagus nerve lesions in varicella Zoster infection()

per Grisold, Wolfgang, Schwarzmeier, Josef, Frei, Klemens, Neumüller, Gerhard, Breier, Friedrich
Publicat a eNeurologicalSci (2021)

Intranuclear Anchoring of Repetitive DNA Sequences: Centromeres, Telomeres, and Ribosomal DNA

per Weipoltshammer, Klara, Schöfer, Christian, Almeder, Marlene, Philimonenko, Vlada V., Frei, Klemens, Wachtler, Franz, Hozák, Pavel
Publicat 1999

Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation

per Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Kirchnawy, Andreas, Streubel, Berthold, Schoefer, Christian, Frei, Klemens, Lucas, Trevor
Publicat a Eur Arch Otorhinolaryngol (2017)

Identification of a rare COCH mutation by whole-exome sequencing: Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal domina...

per Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Kirchnawy, Andreas, Streubel, Berthold, Schoefer, Christian, Gstoettner, Wolfgang, Frei, Klemens, Lucas, Trevor
Publicat a Wien Klin Wochenschr (2017)

Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort

per Koenighofer, Martin, Parzefall, Thomas, Frohne, Alexandra, Allen, Matthew, Unterberger, Ursula, Laccone, Franco, Schoefer, Christian, Frei, Klemens, Lucas, Trevor
Publicat a Clin Exp Otorhinolaryngol (2019)

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation

per Parzefall, Thomas, Frohne, Alexandra, Koenighofer, Martin, Neesen, Juergen, Laccone, Franco, Eckl-Dorna, Julia, Waters, Jonathan J., Schreiner, Markus, Amr, Sami Samir, Ashton, Emma, Schoefer, Christian, Gstœttner, Wolfgang, Frei, Klemens, Lucas, Trevor
Publicat a Front Cell Neurosci (2020)

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

per Hilgert, Nele, Huentelman, Matthew J, Thorburn, Ashley Q, Fransen, Erik, Dieltjens, Nele, Mueller-Malesinska, Malgorzata, Pollak, Agnieszka, Skorka, Agata, Waligora, Jaroslaw, Ploski, Rafal, Castorina, Pierangela, Primignani, Paola, Ambrosetti, Umberto, Murgia, Alessandra, Orzan, Eva, Pandya, Arti, Arnos, Kathleen, Norris, Virginia, Seeman, Pavel, Janousek, Petr, Feldmann, Delphine, Marlin, Sandrine, Denoyelle, Françoise, Nishimura, Carla J, Janecke, Andreas, Nekahm-Heis, Doris, Martini, Alessandro, Mennucci, Elena, Tóth, Timea, Sziklai, Istvan, del Castillo, Ignacio, Moreno, Felipe, Petersen, Michael B, Iliadou, Vasiliki, Tekin, Mustafa, Incesulu, Armagan, Nowakowska, Ewa, Bal, Jerzy, Van de Heyning, Paul, Roux, Anne-Françoise, Blanchet, Catherine, Goizet, Cyril, Lancelot, Guenaëlle, Fialho, Graça, Caria, Helena, Liu, Xue Zhong, Xiaomei, Ouyang, Govaerts, Paul, Grønskov, Karen, Hostmark, Karianne, Frei, Klemens, Dhooge, Ingeborg, Vlaeminck, Stephen, Kunstmann, Erdmute, Van Laer, Lut, Smith, Richard JH, Van Camp, Guy
Publicat 2009