GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling
Frei, Klemens, Ramsebner, Reinhard, Lucas, Trevor, Hamader, Gertrude, Szuhai, Károly, Weipoltshammer, Klara, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin
Published in The Laryngoscope (01.03.2005)
Published in The Laryngoscope (01.03.2005)
Get more information
Journal Article
Relevance of the A1555G Mutation in the 12S rRNA Gene for Hearing Impairment in Austria
Ramsebner, Reinhard, Lucas, Trevor, Schoefer, Christian, Ludwig, Martin, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin, Frei, Klemens
Published in Otology & neurotology (01.10.2007)
Published in Otology & neurotology (01.10.2007)
Get more information
Journal Article
Connexin 26 mutations in cases of sensorineural deafness in eastern Austria
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
Published in European journal of human genetics : EJHG (01.07.2002)
Published in European journal of human genetics : EJHG (01.07.2002)
Get full text
Journal Article
High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria
Ramsebner, Reinhard, Volker, Romana, Lucas, Trevor, Hamader, Gertrude, Weipoltshammer, Klara, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin, Frei, Klemens
Published in Ear and hearing (01.06.2007)
Published in Ear and hearing (01.06.2007)
Get more information
Journal Article
Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria
Frei, Klemens, Ramsebner, Reinhard, Lucas, Trevor, Baumgartner, Wolf-Dieter, Schoefer, Christian, Wachtler, Franz J., Kirschhofer, Karin
Published in Hearing research (01.10.2004)
Published in Hearing research (01.10.2004)
Get full text
Journal Article
Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria
Frei, Klemens, Ramsebner, Reinhard, Hamader, Gertrude, Lucas, Trevor, Schoefer, Christian, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin
Published in Hearing research (01.08.2004)
Published in Hearing research (01.08.2004)
Get full text
Journal Article
A Novel Connexin 26 Mutation Associated with Autosomal Recessive Sensorineural Deafness
Frei, Klemens, Lucas, Trevor, Ramsebner, Reinhard, Schöfer, Christian, Baumgartner, Wolf-Dieter, Weipoltshammer, Klara, Erginel-Unaltuna, Nihan, Wachtler, Franz J., Kirschhofer, Karin
Published in Audiology & neurotology (01.01.2004)
Published in Audiology & neurotology (01.01.2004)
Get full text
Journal Article
Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria
Ramsebner, Reinhard, Lucas, Trevor, Schoefer, Christian, Ludwig, Martin, Baumgartner, Wolf-Dieter, Wachtler, Franz J, Kirschhofer, Karin, Frei, Klemens
Published in Otology & neurotology (01.10.2007)
Get more information
Published in Otology & neurotology (01.10.2007)
Journal Article