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Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss.
Morgan A, Vuckovic D, Krishnamoorthy N, Rubinato E, Ambrosetti U, Castorina P, Franzè A, Vozzi D, La Bianca M, Cappellani S, Di Stazio M, Gasparini P, Girotto G. Morgan A, et al. Among authors: rubinato e. Eur J Hum Genet. 2019 Jan;27(1):70-79. doi: 10.1038/s41431-018-0229-9. Epub 2018 Sep 3. Eur J Hum Genet. 2019. PMID: 30177775 Free PMC article.
TBL1Y: a new gene involved in syndromic hearing loss.
Di Stazio M, Collesi C, Vozzi D, Liu W, Myers M, Morgan A, D Adamo PA, Girotto G, Rubinato E, Giacca M, Gasparini P. Di Stazio M, et al. Among authors: rubinato e. Eur J Hum Genet. 2019 Mar;27(3):466-474. doi: 10.1038/s41431-018-0282-4. Epub 2018 Oct 19. Eur J Hum Genet. 2019. PMID: 30341416 Free PMC article.
Pendred Syndrome, or Not Pendred Syndrome? That Is the Question.
Tesolin P, Fiorino S, Lenarduzzi S, Rubinato E, Cattaruzzi E, Ammar L, Castro V, Orzan E, Granata C, Dell'Orco D, Morgan A, Girotto G. Tesolin P, et al. Among authors: rubinato e. Genes (Basel). 2021 Oct 1;12(10):1569. doi: 10.3390/genes12101569. Genes (Basel). 2021. PMID: 34680964 Free PMC article.
18 results