GJB2 Mutations in Hearing Impairment: Identification of a Broad Clinical Spectrum for Improved Genetic Counseling von Frei, Klemens, Ramsebner, Reinhard, Lucas, Trevor, Hamader, Gertrude, Szuhai, Károly, Weipoltshammer, Klara, Baumgartner, Wolf-Dieter, Wachtler, Franz J., Kirschhofer, Karin

Volltext

Progressive Perforation of the Nasal Septum Due to Leishmania major : A Case of Mucosal Leishmaniasis in a Traveler von Harrison, Nicole, Walochnik, Julia, Ramsebner, Reinhard, Veletzky, Luzia, Lagler, Heimo, Ramharter, Michael

Volltext

Delayed auditory pathway maturation and prematurity von Koenighofer, Martin, Parzefall, Thomas, Ramsebner, Reinhard, Lucas, Trevor, Frei, Klemens

Volltext

The promoter mutation c.−259C>T (−3438C>T) is not a common cause of non-syndromic hearing impairment in Austria von Koenighofer, Martin, Lucas, Trevor, Parzefall, Thomas, Ramsebner, Reinhard, Schoefer, Christian, Frei, Klemens

Volltext

Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family von Ramsebner, Reinhard, Koenighofer, Martin, Parzefall, Thomas, Lucas, Trevor, Schoefer, Christian, Frei, Klemens

Volltext

Endolymphatic sac tumor and angiomatous lesions of the nasal and pharyngeal mucosa as a first manifestation of von Hippel‐Lindau disease von Honeder, Clemens, Gstoettner, Wolfgang, Matula, Christian, Czerny, Christian, Gruber, Andreas, Ramsebner, Reinhard, Arnoldner, Christoph

Volltext

A Novel Missense NDP Mutation [p.(Cys93Arg)] with a Manifesting Carrier in an Austrian Family with Norrie Disease von Parzefall, Thomas, Lucas, Trevor, Ritter, Markus, Ludwig, Martin, Ramsebner, Reinhard, Frohne, Alexandra, Schöfer, Christian, Hengstschläger, Markus, Frei, Klemens

Volltext

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia von Ramsebner, Reinhard, Ludwig, Martin, Parzefall, Thomas, Lucas, Trevor, Baumgartner, Wolf-Dieter, Bodamer, Olaf, Cengiz, Filiz Basak, Schoefer, Christian, Tekin, Mustafa, Frei, Klemens

Volltext

Identification of a SNP in a Regulatory Region of GJB2 Associated With Idiopathic Nonsyndromic Autosomal Recessive Hearing Loss in a Multicenter Study von Ramsebner, Reinhard, Ludwig, Martin, Lucas, Trevor, de Jong, Daniëlle, Hamader, Gertrude, del Castillo, Ignacio, Parzefall, Thomas, Baumgartner, Wolf-Dieter, Schoefer, Christian, Szuhai, Karoly, Frei, Klemens

Volltext

Vasoactive intestinal peptide gene alterations in patients with idiopathic pulmonary arterial hypertension von HABERL, Ines, FREI, Klemens, RAMSEBNER, Reinhard, DOBERER, Daniel, PETKOV, Ventzislav, ALBINNI, Sulaima, LANG, Irene, LUCAS, Trevor, MOSGOELLER, Wilhelm

Volltext

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria von Frei, Klemens, Szuhai, Károly, Lucas, Trevor, Weipoltshammer, Klara, Schöfer, Christian, Ramsebner, Reinhard, Baumgartner, Wolf-Dieter, Raap, Anton K, Bittner, Reginald, Wachtler, Franz J, Kirschhofer, Karin

Volltext

High Incidence of GJB2 Mutations During Screening of Newborns for Hearing Loss in Austria von Ramsebner, Reinhard, Volker, Romana, Lucas, Trevor, Hamader, Gertrude, Weipoltshammer, Klara, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin, Frei, Klemens

Volltext

Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria von Frei, Klemens, Ramsebner, Reinhard, Lucas, Trevor, Baumgartner, Wolf-Dieter, Schoefer, Christian, Wachtler, Franz J., Kirschhofer, Karin

Volltext

Relevance of the A1555G Mutation in the 12S rRNA Gene for Hearing Impairment in Austria von Ramsebner, Reinhard, Lucas, Trevor, Schoefer, Christian, Ludwig, Martin, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin, Frei, Klemens

Volltext

Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria von Ramsebner, Reinhard, Lucas, Trevor, Schoefer, Christian, Ludwig, Martin, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin, Frei, Klemens

Volltext

Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria von Frei, Klemens, Ramsebner, Reinhard, Hamader, Gertrude, Lucas, Trevor, Schoefer, Christian, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin

Volltext

A Novel Connexin 26 Mutation Associated with Autosomal Recessive Sensorineural Deafness von Frei, Klemens, Lucas, Trevor, Ramsebner, Reinhard, Schöfer, Christian, Baumgartner, Wolf-Dieter, Weipoltshammer, Klara, Erginel-Unaltuna, Nihan, Wachtler, Franz J., Kirschhofer, Karin

Volltext

Endolymphatic sac tumor and angiomatous lesions of the nasal and pharyngeal mucosa as a first manifestation of von Hippel-Lindau disease von Honeder, Clemens, Gstoettner, Wolfgang, Matula, Christian, Czerny, Christian, Gruber, Andreas, Ramsebner, Reinhard, Arnoldner, Christoph

Volltext

The sector coupling concept: A critical review von Ramsebner, Jasmine, Haas, Reinhard, Ajanovic, Amela, Wietschel, Martin

Volltext

Techno-economic evaluation of renewable hydrogen generation strategies for the industrial sector von Ramsebner, Jasmine, Linares, Pedro, Hiesl, Albert, Haas, Reinhard

Volltext