HuGE Literature Finder
Records 1-5
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An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients.
European journal of human genetics : EJHG 2016 Jul . Bonnet Crystel, Riahi Zied, Chantot-Bastaraud Sandra, Smagghe Luce, Letexier Mélanie, Marcaillou Charles, Lefèvre Gaëlle M, Hardelin Jean-Pierre, El-Amraoui Aziz, Singh-Estivalet Amrit, Mohand-Saïd Saddek, Kohl Susanne, Kurtenbach Anne, Sliesoraityte Ieva, Zobor Ditta, Gherbi Souad, Testa Francesco, Simonelli Francesca, Banfi Sandro, Fakin Ana, Glava? Damjan, Jarc-Vidmar Martina, Zupan Andrej, Battelino Saba, Martorell Sampol Loreto, Claveria Maria Antonia, Catala Mora Jaume, Dad Shzeena, Møller Lisbeth B, Rodriguez Jorge Jesus, Hawlina Marko, Auricchio Alberto, Sahel José-Alain, Marlin Sandrine, Zrenner Eberhart, Audo Isabelle, Petit Christi |
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Identification of a novel CLRN1 gene mutation in Usher syndrome type 3: two case reports.
The Annals of otology, rhinology, and laryngology 2015 May 124 Suppl 1 94S-9S. Yoshimura Hidekane, Oshikawa Chie, Nakayama Jun, Moteki Hideaki, Usami Shin-Ic |
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Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.
Orphanet journal of rare diseases 2015 10 (1): 110. Jiang Lichun, Liang Xiaofang, Li Yumei, Wang Jing, Zaneveld Jacques Eric, Wang Hui, Xu Shan, Wang Keqing, Wang Binbin, Chen Rui, Sui Ruifa |
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Targeted next generation sequencing for molecular diagnosis of Usher syndrome.
Orphanet journal of rare diseases 2014 9 168. Aparisi María J, Aller Elena, Fuster-García Carla, García-García Gema, Rodrigo Regina, Vázquez-Manrique Rafael P, Blanco-Kelly Fiona, Ayuso Carmen, Roux Anne-Françoise, Jaijo Teresa, Millán José |
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Microarray-based mutation analysis of 183 Spanish families with Usher syndrome.
Investigative ophthalmology & visual science 2010 Mar 51 (3): 1311-7. Jaijo Teresa, Aller Elena, García-García Gema, Aparisi María J, Bernal Sara, Avila-Fernández Almudena, Barragán Isabel, Baiget Montserrat, Ayuso Carmen, Antiñolo Guillermo, Díaz-Llopis Manuel, Külm Maigi, Beneyto Magdalena, Nájera Carmen, Millán Jose |
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