Search Page
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
Search Results
4 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
DEEP PHENOTYPING AND FURTHER INSIGHTS INTO ITM2B-RELATED RETINAL DYSTROPHY.
Retina. 2021 Apr 1;41(4):872-881. doi: 10.1097/IAE.0000000000002953.
Retina. 2021.
PMID: 32826790
Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort.
Smirnov VM, Nassisi M, Mohand-Saïd S, Bonnet C, Aubois A, Devisme C, Dib T, Zeitz C, Loundon N, Marlin S, Petit C, Bodaghi B, Sahel JA, Audo I.
Smirnov VM, et al. Among authors: aubois a.
Invest Ophthalmol Vis Sci. 2022 Apr 1;63(4):25. doi: 10.1167/iovs.63.4.25.
Invest Ophthalmol Vis Sci. 2022.
PMID: 35481838
Free PMC article.
Item in Clipboard
Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis.
Boucher S, Tai FWJ, Delmaghani S, Lelli A, Singh-Estivalet A, Dupont T, Niasme-Grare M, Michel V, Wolff N, Bahloul A, Bouyacoub Y, Bouccara D, Fraysse B, Deguine O, Collet L, Thai-Van H, Ionescu E, Kemeny JL, Giraudet F, Lavieille JP, Devèze A, Roudevitch-Pujol AL, Vincent C, Renard C, Franco-Vidal V, Thibult-Apt C, Darrouzet V, Bizaguet E, Coez A, Aschard H, Michalski N, Lefevre GM, Aubois A, Avan P, Bonnet C, Petit C.
Boucher S, et al. Among authors: aubois a.
Proc Natl Acad Sci U S A. 2020 Dec 8;117(49):31278-31289. doi: 10.1073/pnas.2010782117. Epub 2020 Nov 23.
Proc Natl Acad Sci U S A. 2020.
PMID: 33229591
Free PMC article.
Item in Clipboard
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.
Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Levilliers J, Garabédian EN, Mueller RF, Gardner RJ, Petit C, et al.
Denoyelle F, et al. Among authors: aubois a.
Hum Mol Genet. 1997 Nov;6(12):2173-7. doi: 10.1093/hmg/6.12.2173.
Hum Mol Genet. 1997.
PMID: 9336442
Item in Clipboard
Cite
Cite