HuGE Literature Finder
Records
1
-
5
| Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct. Thyroid : official journal of the American Thyroid Association 2014 Apr 24 (4): 639-48. Ladsous Miriam, Vlaeminck-Guillem Virginie, Dumur Viviane, Vincent Christophe, Dubrulle Frédérique, Dhaenens Claire-Marie, Wémeau Jean-Lou |
| Hearing impairment in Estonia: an algorithm to investigate genetic causes in pediatric patients. Advances in medical sciences 2013 58 (2): 419-28. Teek R, Kruustük K, Žordania R, Joost K, Kahre T, Tõnisson N, Nelis M, Zilina O, Tranebjaerg L, Reimand T, Ounap |
| Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). Annals of human genetics 2010 Jul 74 (4): 299-307. Pourová Radka, Janousek Petr, Jurovcík Michal, Dvoráková Marcela, Malíková Marcela, Rasková Dagmar, Bendová Olga, Leonardi Emanuela, Murgia Alessandra, Kabelka Zdenek, Astl Jaromír, Seeman Pav |
| Genotype-phenotype correlations for SLC26A4-related deafness. Human genetics 2007 Dec 122 (5): 451-7. Azaiez Hela, Yang Tao, Prasad Sai, Sorensen Jessica L, Nishimura Carla J, Kimberling William J, Smith Richard J |
| Mutations in the SLC26A4 (pendrin) gene in patients with sensorineural deafness and enlarged vestibular aqueduct. Journal of endocrinological investigation 2004 May 27 (5): 430-5. Bogazzi F, Russo D, Raggi F, Ultimieri F, Berrettini S, Forli F, Grasso L, Ceccarelli C, Mariotti S, Pinchera A, Bartalena L, Martino |
- Page last reviewed:Oct 1, 2021
- Page last updated:Oct 20, 2021
- Content source: