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
Filters
Results by year
Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2010 | 1 |
2013 | 1 |
2014 | 1 |
2015 | 1 |
2016 | 1 |
2017 | 1 |
2023 | 0 |
PubMed for id: 462054
5 results
Results by year
Filters applied: . Clear all
Page 1
Absence of SERPINB6A causes sensorineural hearing loss with multiple histopathologies in the mouse inner ear.
Am J Pathol. 2013 Jul;183(1):49-59. doi: 10.1016/j.ajpath.2013.03.009. Epub 2013 May 10.
Am J Pathol. 2013.
PMID: 23669344
A truncating mutation in SERPINB6 is associated with autosomal-recessive nonsyndromic sensorineural hearing loss.
Sirmaci A, Erbek S, Price J, Huang M, Duman D, Cengiz FB, Bademci G, Tokgöz-Yilmaz S, Hişmi B, Ozdağ H, Oztürk B, Kulaksizoğlu S, Yildirim E, Kokotas H, Grigoriadou M, Petersen MB, Shahin H, Kanaan M, King MC, Chen ZY, Blanton SH, Liu XZ, Zuchner S, Akar N, Tekin M.
Sirmaci A, et al.
Am J Hum Genet. 2010 May 14;86(5):797-804. doi: 10.1016/j.ajhg.2010.04.004. Epub 2010 May 6.
Am J Hum Genet. 2010.
PMID: 20451170
Free PMC article.
Item in Clipboard
Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.
Verrigni D, Diodato D, Di Nottia M, Torraco A, Bellacchio E, Rizza T, Tozzi G, Verardo M, Piemonte F, Tasca G, D'Amico A, Bertini E, Carrozzo R.
Verrigni D, et al.
Clin Genet. 2017 Jun;91(6):918-923. doi: 10.1111/cge.12931. Epub 2017 Mar 17.
Clin Genet. 2017.
PMID: 27891585
Item in Clipboard
Identification of SLC26A4 mutations p.L582LfsX4, p.I188T and p.E704K in a Chinese family with large vestibular aqueduct syndrome (LVAS).
Li Y, Zhu B, Su J, Yin Y, Yu F.
Li Y, et al.
Int J Pediatr Otorhinolaryngol. 2016 Dec;91:1-5. doi: 10.1016/j.ijporl.2016.08.026. Epub 2016 Aug 30.
Int J Pediatr Otorhinolaryngol. 2016.
PMID: 27863619
Item in Clipboard
The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness.
Yazdanpanahi N, Tabatabaiefar MA, Bagheri N, Azadegan Dehkordi F, Farrokhi E, Hashemzadeh Chaleshtori M.
Yazdanpanahi N, et al.
Int J Audiol. 2015 Feb;54(2):124-30. doi: 10.3109/14992027.2014.944276. Epub 2014 Oct 7.
Int J Audiol. 2015.
PMID: 25290043
Item in Clipboard
Cite
Cite