Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Syndrome and GJB6[original query] |
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| The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. Pediatric research 2004 Jun 55 (6): 995-1000. Brownstein Zippora, Ben-Yosef Tamar, Dagan Orit, Frydman Moshe, Abeliovich Dvorah, Sagi Michal, Abraham Fabian A, Taitelbaum-Swead Riki, Shohat Mordechai, Hildesheimer Minka, Friedman Thomas B, Avraham Karen |
| [The roles of connexin genes in sporadic hearing loss population]. Zhonghua yi xue za zhi 2007 Apr 87 (16): 1097-101. Li Qing-zhong, Wang Qiu-ju, Chi Fang-lu, Li Li-na, Zhao Ya-li, Yuan Hu, Han Dong- |
| Genetic analysis of presbycusis by arrayed primer extension. Annals of clinical and laboratory science 2008 38 (4): 352-60. Rodriguez-Paris Juan, Ballay Charles, Inserra Michelle, Stidham Katrina, Colen Tahl, Roberson Joseph, Gardner Phyllis, Schrijver Ir |
| Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss. International journal of pediatric otorhinolaryngology 2009 Jan 73 (1): 103-7. Teek Rita, Oitmaa Eneli, Kruustük Katrin, Zordania Riina, Joost Kairit, Raukas Elve, Tõnisson Neeme, Gardner Phyllis, Schrijver Iris, Kull Mart, Ounap Katr |
| Causes of hearing impairment in the Norwegian paediatric cochlear implant program. International journal of audiology 2010 Aug 49 (8): 596-605. Siem Geir, Fagerheim Toril, Jonsrud Christoffer, Laurent Claude, Teig Erik, Harris Sten, Leren Trond P, Früh Andreas, Heimdal Ket |
| Common genes for non-syndromic deafness are uncommon in sub-Saharan Africa: a report from Nigeria. International journal of pediatric otorhinolaryngology 2014 Nov 78 (11): 1870-3. Lasisi Akeem O, Bademci Guney, Foster Joseph, Blanton Susan, Tekin Musta |
| 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 |
| A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia. Journal of the European Academy of Dermatology and Venereology : JEADV 2016 May . Yang R, Hu Zl, Kong Qt, Li Ww, Zhang Ll, Du X, Huang Sy, Xia Xy, Sang |
| Frequency of Usher gene mutations in non-syndromic hearing loss: higher variability of the Usher phenotype. Journal of human genetics 2020 May . Cesca Federica, Bettella Elisa, Polli Roberta, Leonardi Emanuela, Aspromonte Maria Cristina, Sicilian Barbara, Stanzial Franco, Benedicenti Francesco, Sensi Alberto, Ciorba Andrea, Bigoni Stefania, Cama Elona, Scimemi Pietro, Santarelli Rosamaria, Murgia Alessand |
| Whole-Exome Sequencing Targeting a Gene Panel for Sensorineural Hearing Loss: The First Portuguese Cohort Study. Cytogenetic and genome research 2022 5 162 (1-2): 1-9. Reis Cláudia Sousa, Quental Sofia, Fernandes Susana, Castedo Sérgio, Moura Carla Pin |
- Page last reviewed:Feb 1, 2024
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