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Items: 4

Select item 64307291.

Study on the relationship between the pathogenic mutations of SLC26A4 and CT phenotypes of inner ear in patient with sensorineural hearing loss

Lihua Wu, Yunliang Liu, Jianman Wu, Sheng Chen, Shupin Tang, Yi Jiang, Pu Dai

Biosci Rep. 2019 Mar 29; 39(3): BSR20182241. Prepublished online 2019 Mar 7. Published online 2019 Mar 22. doi: 10.1042/BSR20182241

PMCID:: PMC6430729

Abstract Article PDF–851K

Select item 40223262.

EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

Asma Behlouli, Crystel Bonnet, Samia Abdi, Aïcha Bouaita, Andrea Lelli, Jean-Pierre Hardelin, Cataldo Schietroma, Yahia Rous, Malek Louha, Ahmed Cheknane, Hayet Lebdi, Kamel Boudjelida, Mohamed Makrelouf, Akila Zenati, Christine Petit

Orphanet J Rare Dis. 2014; 9: 55. Published online 2014 Apr 17. doi: 10.1186/1750-1172-9-55

PMCID:: PMC4022326

Abstract Article PDF–3.4M

Select item 28456673.

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

Elena Aller, Teresa Jaijo, Erwin van Wijk, Inga Ebermann, Ferry Kersten, Gema García-García, Krysta Voesenek, María José Aparisi, Lies Hoefsloot, Cor Cremers, Manuel Díaz-Llopis, Ronald Pennings, Hanno J. Bolz, Hannie Kremer, José M. Millán

Mol Vis. 2010; 16: 495–500. Published online 2010 Mar 23.