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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2003 1
2005 2
2008 1
2009 1
2012 2
2014 3
2015 4
2016 2
2018 4
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.
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.
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.
TRIOBP-5 sculpts stereocilia rootlets and stiffens supporting cells enabling hearing.
Katsuno T, Belyantseva IA, Cartagena-Rivera AX, Ohta K, Crump SM, Petralia RS, Ono K, Tona R, Imtiaz A, Rehman A, Kiyonari H, Kaneko M, Wang YX, Abe T, Ikeya M, Fenollar-Ferrer C, Riordan GP, Wilson EA, Fitzgerald TS, Segawa K, Omori K, Ito J, Frolenkov GI, Friedman TB, Kitajiri SI. Katsuno T, et al. Among authors: fenollar ferrer c. JCI Insight. 2019 Jun 20;4(12):e128561. doi: 10.1172/jci.insight.128561. eCollection 2019 Jun 20. JCI Insight. 2019. PMID: 31217345 Free PMC article.
33 results