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Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report
Názov Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report Autor Varga Lukáš 1982- SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Spoluautori Daniš Daniel 1989 SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Mašindová Ivica 1983 SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Slobodová Zuzana SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Demesová Lucia Profant Milan Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Zdroj.dok. BMC Medical Genetics. Vol. 20, no. 1 (2019), art. 84 Jazyk dok. eng - angličtina Druh dok. rozpis článkov z periodík (rbx) Ohlasy MORIN, Matias - BORREGUERO, Lucia - BOOTH, Kevin T. - LACHGAR, Maria - HUYGEN, Patrick - VILLAMAR, Manuela - MAYO, Fernando - CARLOS BARRIO, Luis - SERRAO DE CASTRO, Luciana Santos - MORALES, Carmelo - DEL CASTILLO, Ignacio - ARELLANO, Beatriz - TELLERIA, Dolores - SMITH, Richard J. H. - AZAIEZ, Hela - MORENO PELAYO, M. A. Insights into the pathophysiology of DFNA10 hearing loss associated with novel EYA4 variants. In SCIENTIFIC REPORTS. ISSN 2045-2322, 2020, vol. 10, no. 1, pp. LIU, W. - JOHANSSON, A. - RASK-ANDERSEN, H. - RASK-ANDERSEN, M. A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens. In BMC MEDICINE. ISSN 1741-7015, DEC 1 2021, vol. 19, no. 1. ISHINO, T. - OGAWA, Y. - SONOYAMA, T. - TARUYA, T. - KONO, T. - HAMAMOTO, T. - UEDA, T. - TAKENO, S. - MOTEKI, H. - NISHIO, S.Y. - USAMI, S.I. - NAGANO, Y. - YOSHIMURA, A. - YOSHIKAWA, K. - KATO, M. - ICHIMOTO, M. - WATANABE, R. Identification of a Novel Copy Number Variation of EYA4 Causing Autosomal Dominant Non-syndromic Hearing Loss. In OTOLOGY & NEUROTOLOGY. ISSN 1531-7129, AUG 2021, vol. 42, no. 7, p. E866-E874. PUTSCHER, E. - HECKER, M. - FITZNER, B. - LORENZ, P. - ZETTL, U.K. Principles and Practical Considerations for the Analysis of Disease-Associated Alternative Splicing Events Using the Gateway Cloning-Based Minigene Vectors pDESTsplice and pSpliceExpress. In INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. MAY 2021, vol. 22, no. 10. AHMADMEHRABI, S. - LI, B.L. - PARK, J. - DEVKOTA, B. - VUJKOVIC, M. - KO, Y.A. - VAN WAGONER, D. - TANG, W.H.W. - KRANTZ, I. - RITCHIE, M. - BRANT, J. - RUCKENSTEIN, M.J. - EPSTEIN, D.J. - RADER, D.J. Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults. In HUMAN GENETICS. ISSN 0340-6717, JUN 2021, vol. 140, no. 6, p. 957-967. ZHANG, W.X. - SONG, J. - TONG, B.S. - MA, M.Y. - GUO, L. - YUAN, Y.S. - YANG, J.M. Identification of a novel CNV at the iEYA4/i gene in a Chinese family with autosomal dominant nonsyndromic hearing loss. In BMC MEDICAL GENOMICS. MAY 16 2022, vol. 15, no. 1. Dostupné na: https://doi.org/10.1186/s12920-022-01269-x. Kategória ADCA - Vedecké práce v zahraničných karentovaných časopisoch impaktovaných Kategória (od 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Typ výstupu článok Rok vykazovania 2019 Registrované v WOS Registrované v SCOPUS Registrované v CCC DOI 10.1186/s12881-019-0806-y 
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Názov súboru Prístup Veľkosť Stiahnuté Typ Licence Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss.pdf Prístupný 1.2 MB 0 Vydavateľská verzia rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2019 2018 1.740 Q3 0.808 Q3
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