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Year Number of Results
2003 1
2005 2
2008 1
2009 1
2012 2
2014 3
2015 4
2016 2
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2019 3
2020 2
2021 6
2022 5
2023 2
2024 0

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33 results

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Page 1
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
Roux I, Fenollar-Ferrer C, Lee HJ, Chattaraj P, Lopez IA, Han K, Honda K, Brewer CC, Butman JA, Morell RJ, Martin DM, Griffith AJ. Roux I, et al. Among authors: fenollar ferrer c. Hum Genet. 2023 Oct;142(10):1499-1517. doi: 10.1007/s00439-023-02581-x. Epub 2023 Sep 5. Hum Genet. 2023. PMID: 37668839 Free PMC article.
Variants of human CLDN9 cause mild to profound hearing loss.
Ramzan M, Philippe C, Belyantseva IA, Nakano Y, Fenollar-Ferrer C, Tona R, Yousaf R, Basheer R, Imtiaz A, Faridi R, Munir Z, Idrees H, Salman M, Nambot S, Vitobello A, Kartti S, Zarrik O, Witmer PD, Sobreria N, Ibrahimi A, Banfi B, Moutton S, Friedman TB, Naz S. Ramzan M, et al. Among authors: fenollar ferrer c. Hum Mutat. 2021 Oct;42(10):1321-1335. doi: 10.1002/humu.24260. Epub 2021 Aug 1. Hum Mutat. 2021. PMID: 34265170 Free PMC article.
Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia.
Aguilar JI, Cheng MH, Font J, Schwartz AC, Ledwitch K, Duran A, Mabry SJ, Belovich AN, Zhu Y, Carter AM, Shi L, Kurian MA, Fenollar-Ferrer C, Meiler J, Ryan RM, Mchaourab HS, Bahar I, Matthies HJ, Galli A. Aguilar JI, et al. Among authors: fenollar ferrer c. Elife. 2021 May 18;10:e68039. doi: 10.7554/eLife.68039. Elife. 2021. PMID: 34002696 Free PMC article.
Lysosomal SLC46A3 modulates hepatic cytosolic copper homeostasis.
Kim JH, Matsubara T, Lee J, Fenollar-Ferrer C, Han K, Kim D, Jia S, Chang CJ, Yang H, Nagano T, Krausz KW, Yim SH, Gonzalez FJ. Kim JH, et al. Among authors: fenollar ferrer c. Nat Commun. 2021 Jan 12;12(1):290. doi: 10.1038/s41467-020-20461-0. Nat Commun. 2021. PMID: 33436590 Free PMC article.
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness.
Tona R, Lopez IA, Fenollar-Ferrer C, Faridi R, Anselmi C, Khan AA, Shahzad M, Morell RJ, Gu S, Hoa M, Dong L, Ishiyama A, Belyantseva IA, Riazuddin S, Friedman TB. Tona R, et al. Among authors: fenollar ferrer c. Genes (Basel). 2020 Sep 24;11(10):1122. doi: 10.3390/genes11101122. Genes (Basel). 2020. PMID: 32987832 Free PMC article.
33 results