Schoefer C - Search Results

1

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

Frohne A, Koenighofer M, Cetin H, Nieratschker M, Liu DT, Laccone F, Neesen J, Nemec SF, Schwarz-Nemec U, Schoefer C, Avraham KB, Frei K, Grabmeier-Pfistershammer K, Kratzer B, Schmetterer K, Pickl WF, Parzefall T. Frohne A, et al. Among authors: schoefer c. Hum Genet. 2023 Aug;142(8):1077-1089. doi: 10.1007/s00439-022-02506-0. Epub 2022 Nov 29. Hum Genet. 2023. PMID: 36445457 Free PMC article.

2

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

Frei K, Ramsebner R, Hamader G, Lucas T, Schoefer C, Baumgartner WD, Wachtler FJ, Kirschhofer K. Frei K, et al. Among authors: schoefer c. Hear Res. 2004 Aug;194(1-2):81-6. doi: 10.1016/j.heares.2004.03.007. Hear Res. 2004. PMID: 15276679

3

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

Frei K, Ramsebner R, Lucas T, Baumgartner WD, Schoefer C, Wachtler FJ, Kirschhofer K. Frei K, et al. Among authors: schoefer c. Hear Res. 2004 Oct;196(1-2):115-8. doi: 10.1016/j.heares.2004.07.001. Hear Res. 2004. PMID: 15464308

4

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

Ramsebner R, Lucas T, Schoefer C, Ludwig M, Baumgartner WD, Wachtler FJ, Kirschhofer K, Frei K. Ramsebner R, et al. Among authors: schoefer c. Otol Neurotol. 2007 Oct;28(7):884-886. doi: 10.1097/MAO.0b013e3181461b26. Otol Neurotol. 2007. PMID: 17704703

5

Relevance of the A1555G mutation in the 12S rRNA gene for hearing impairment in Austria.

Ramsebner R, Lucas T, Schoefer C, Ludwig M, Baumgartner WD, Wachtler FJ, Kirschhofer K, Frei K. Ramsebner R, et al. Among authors: schoefer c. Otol Neurotol. 2007 Oct;28(7):884-6. Otol Neurotol. 2007. PMID: 17955603

6

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

Ramsebner R, Ludwig M, Parzefall T, Lucas T, Baumgartner WD, Bodamer O, Cengiz FB, Schoefer C, Tekin M, Frei K. Ramsebner R, et al. Among authors: schoefer c. Laryngoscope. 2010 Feb;120(2):359-64. doi: 10.1002/lary.20689. Laryngoscope. 2010. PMID: 19950373

7

Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study.

Ramsebner R, Ludwig M, Lucas T, de Jong D, Hamader G, del Castillo I, Parzefall T, Baumgartner WD, Schoefer C, Szuhai K, Frei K. Ramsebner R, et al. Among authors: schoefer c. Otol Neurotol. 2013 Jun;34(4):650-6. doi: 10.1097/MAO.0b013e31828d6501. Otol Neurotol. 2013. PMID: 23640091

8

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

Ramsebner R, Koenighofer M, Parzefall T, Lucas T, Schoefer C, Frei K. Ramsebner R, et al. Among authors: schoefer c. Int J Pediatr Otorhinolaryngol. 2014 May;78(5):837-42. doi: 10.1016/j.ijporl.2014.02.025. Epub 2014 Feb 26. Int J Pediatr Otorhinolaryngol. 2014. PMID: 24636747

9

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

Koenighofer M, Lucas T, Parzefall T, Ramsebner R, Schoefer C, Frei K. Koenighofer M, et al. Among authors: schoefer c. Eur Arch Otorhinolaryngol. 2015 Jan;272(1):229-32. doi: 10.1007/s00405-014-3223-z. Epub 2014 Aug 2. Eur Arch Otorhinolaryngol. 2015. PMID: 25085637

10

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

Parzefall T, Lucas T, Koenighofer M, Ramsebner R, Frohne A, Czeiger S, Baumgartner WD, Schoefer C, Gstoettner W, Frei K. Parzefall T, et al. Among authors: schoefer c. Acta Otolaryngol. 2017 Apr;137(4):356-360. doi: 10.1080/00016489.2016.1249946. Epub 2016 Nov 9. Acta Otolaryngol. 2017. PMID: 27827000

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

23 results

Search Page

Filters