Human Genome Epidemiology Literature Finder
Records 1 - 8 (of 8 Records) |
Query Trace: Syndrome and CLRN1[original query] |
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Strategies for genetic study of hearing loss in the Brazilian northeastern region. International journal of molecular epidemiology and genetics 2014 5 (1): 11-21. Melo Uirá S, Santos Silvana, Cavalcanti Hannalice G, Andrade Wagner T, Dantas Vitor G, Rosa Marine Rd, Mingroni-Netto Regina |
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 |
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 |
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 |
The Genetics of Usher Syndrome in the Israeli and Palestinian Populations. Investigative ophthalmology & visual science 2018 3 59 (2): 1095-1104. Khalaileh Ayat, Abu-Diab Alaa, Ben-Yosef Tamar, Raas-Rothschild Annick, Lerer Israela, Alswaiti Yahya, Chowers Itay, Banin Eyal, Sharon Dror, Khateb Sam |
Genetic Screening of the Usher Syndrome in Cuba. Frontiers in genetics 2019 6 10 501. Santana Elayne E, Fuster-García Carla, Aller Elena, Jaijo Teresa, García-Bohórquez Belén, García-García Gema, Millán José M, Lantigua Arace |
Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes. Genes 2020 1 10 (12): . Jaffal Lama, Joumaa Wissam H, Assi Alexandre, Helou Charles, Cherfan George, Zibara Kazem, Audo Isabelle, Zeitz Christina, El Shamieh Sa |
Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon. Frontiers in genetics 2022 6 13 864228. Jaffal Lama, Akhdar Hanane, Joumaa Hawraa, Ibrahim Mariam, Chhouri Zahraa, Assi Alexandre, Helou Charles, Lee Hane, Seo Go Hun, Joumaa Wissam H, El Shamieh Sa |
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