Vona B - Search Results

1

Expanding the clinical phenotype of IARS2-related mitochondrial disease.

Vona B, Maroofian R, Bellacchio E, Najafi M, Thompson K, Alahmad A, He L, Ahangari N, Rad A, Shahrokhzadeh S, Bahena P, Mittag F, Traub F, Movaffagh J, Amiri N, Doosti M, Boostani R, Shirzadeh E, Haaf T, Diodato D, Schmidts M, Taylor RW, Karimiani EG. Vona B, et al. BMC Med Genet. 2018 Nov 12;19(1):196. doi: 10.1186/s12881-018-0709-3. BMC Med Genet. 2018. PMID: 30419932 Free PMC article.

2

Confirmation of GRHL2 as the gene for the DFNA28 locus.

Vona B, Nanda I, Neuner C, Müller T, Haaf T. Vona B, et al. Am J Med Genet A. 2013 Aug;161A(8):2060-5. doi: 10.1002/ajmg.a.36017. Epub 2013 Jun 27. Am J Med Genet A. 2013. PMID: 23813623 Free PMC article.

3

Disruption of the ATE1 and SLC12A1 Genes by Balanced Translocation in a Boy with Non-Syndromic Hearing Loss.

Vona B, Neuner C, El Hajj N, Schneider E, Farcas R, Beyer V, Zechner U, Keilmann A, Poot M, Bartsch O, Nanda I, Haaf T. Vona B, et al. Mol Syndromol. 2014 Jan;5(1):3-10. doi: 10.1159/000355443. Epub 2013 Oct 4. Mol Syndromol. 2014. PMID: 24550759 Free PMC article.

4

Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.

Vona B, Müller T, Nanda I, Neuner C, Hofrichter MA, Schröder J, Bartsch O, Läßig A, Keilmann A, Schraven S, Kraus F, Shehata-Dieler W, Haaf T. Vona B, et al. Genet Med. 2014 Dec;16(12):945-53. doi: 10.1038/gim.2014.65. Epub 2014 May 29. Genet Med. 2014. PMID: 24875298 Free PMC article.

5

Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature.

Vona B, Nanda I, Neuner C, Schröder J, Kalscheuer VM, Shehata-Dieler W, Haaf T. Vona B, et al. BMC Med Genet. 2014 Jun 25;15:72. doi: 10.1186/1471-2350-15-72. BMC Med Genet. 2014. PMID: 24962056 Free PMC article. Review.

6

Non-syndromic hearing loss gene identification: A brief history and glimpse into the future.

Vona B, Nanda I, Hofrichter MA, Shehata-Dieler W, Haaf T. Vona B, et al. Mol Cell Probes. 2015 Oct;29(5):260-70. doi: 10.1016/j.mcp.2015.03.008. Epub 2015 Apr 3. Mol Cell Probes. 2015. PMID: 25845345 Free article. Review.

7

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics.

Vona B, Hofrichter MA, Neuner C, Schröder J, Gehrig A, Hennermann JB, Kraus F, Shehata-Dieler W, Klopocki E, Nanda I, Haaf T. Vona B, et al. Clin Genet. 2015;87(1):49-55. doi: 10.1111/cge.12332. Epub 2014 Jan 21. Clin Genet. 2015. PMID: 26011646 Free PMC article.

8

A Novel de novo Mutation in CEACAM16 Associated with Postlingual Hearing Impairment.

Hofrichter MA, Nanda I, Gräf J, Schröder J, Shehata-Dieler W, Vona B, Haaf T. Hofrichter MA, et al. Among authors: vona b. Mol Syndromol. 2015 Oct;6(4):156-63. doi: 10.1159/000439576. Epub 2015 Sep 3. Mol Syndromol. 2015. PMID: 26648831 Free PMC article.

9

Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene.

Vona B, Lechno S, Hofrichter MA, Hopf S, Läig AK, Haaf T, Keilmann A, Zechner U, Bartsch O. Vona B, et al. Ear Hear. 2016 Jul-Aug;37(4):e238-46. doi: 10.1097/AUD.0000000000000278. Ear Hear. 2016. PMID: 26849169

10

Genetics of Tinnitus: Still in its Infancy.

Vona B, Nanda I, Shehata-Dieler W, Haaf T. Vona B, et al. Front Neurosci. 2017 May 8;11:236. doi: 10.3389/fnins.2017.00236. eCollection 2017. Front Neurosci. 2017. PMID: 28533738 Free PMC article. Review.

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