C. Schoefer

发表

Muscle spindles and Golgi tendon organs in bovine calf extraocular muscle studied by means of double-fluorescent labeling, electron microscopy, and three-dimensional reconstruction.

P. Brugger, D. Moser, J. Lukas, 2003, Experimental eye research.

Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma

T. Parzefall, F. Laccone, K. Frei, 2021, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.

A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.

S. Waldstein, G. Mitulović, T. Parzefall, 2021, Experimental eye research.

Lack of association between Connexin 31 (GJB3) alterations and sensorineural deafness in Austria

W. Baumgartner, K. Kirschhofer, F. Wachtler, 2004, Hearing Research.

A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.

M. Allen, T. Parzefall, K. Frei, 2017, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Histone deacetylase inhibitor Trichostatin A induces neural tube defects and promotes neural crest specification in the chicken neural tube.

C. Seiser, Christina Murko, S. Lagger, 2013, Differentiation; research in biological diversity.

High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss

W. Gstoettner, D. Liu, T. Parzefall, 2021, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Identification of a SNP in a Regulatory Region of GJB2 Associated With Idiopathic Nonsyndromic Autosomal Recessive Hearing Loss in a Multicenter Study

W. Baumgartner, D. de Jong, M. Ludwig, 2013, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

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

B. Streubel, T. Parzefall, K. Frei, 2017, European Archives of Oto-Rhino-Laryngology.

Identification of a rare COCH mutation by whole-exome sequencing

W. Gstoettner, B. Streubel, T. Parzefall, 2017, Wiener klinische Wochenschrift.

Identification of a rare COCH mutation by whole-exome sequencing

W. Gstoettner, B. Streubel, T. Parzefall, 2017, Wiener klinische Wochenschrift.

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation

S. Nemec, K. Schmetterer, W. Pickl, 2022, Human Genetics.

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

M. Allen, U. Unterberger, T. Parzefall, 2019, Clinical and experimental otorhinolaryngology.

NMD is required for timely cell fate transitions by fine-tuning gene expression and regulating translation

Veronika A. Herzog, Stefan L Ameres, A. von Haeseler, 2022, Genes & development.

Expression of class I histone deacetylases during chick and mouse development.

C. Seiser, Christina Murko, S. Lagger, 2010, The International journal of developmental biology.

Screening for monogenetic del(GJB6-D13S1830) and digenic del(GJB6-D13S1830)/GJB2 patterns of inheritance in deaf individuals from Eastern Austria

W. Baumgartner, K. Kirschhofer, K. Frei, 2004, Hearing Research.

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

S. Amr, J. Waters, E. Ashton, 2020, Frontiers in Cellular Neuroscience.

NMD is required for timely cell fate transitions by fine-tuning gene expression and controlling translation

Veronika A. Herzog, Stefan L Ameres, A. von Haeseler, 2020, bioRxiv.

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia

M. Tekin, W. Baumgartner, O. Bodamer, 2010, The Laryngoscope.

Relevance of the A1555G Mutation in the 12S rRNA Gene for Hearing Impairment in Austria

W. Baumgartner, K. Kirschhofer, M. Ludwig, 2007, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Despite a lack of otoacoustic emission, word recognition is not seriously influenced in a TECTA DFNA8/12 family.

T. Parzefall, K. Frei, C. Schoefer, 2014, International journal of pediatric otorhinolaryngology.

The promoter mutation c.−259C>T (−3438C>T) is not a common cause of non-syndromic hearing impairment in Austria

T. Parzefall, K. Frei, C. Schoefer, 2014, European Archives of Oto-Rhino-Laryngology.

The role of alternative GJB2 transcription in screening for neonatal sensorineural deafness in Austria

W. Baumgartner, W. Gstoettner, T. Parzefall, 2017, Acta oto-laryngologica.