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Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome
Title Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome Author Varga Lukáš 1982- SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Co-authors Daniš Daniel 1989 SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Drsata Jakub Mašindová Ivica 1983 SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Slobodová Zuzana Chrobok Viktor Profant Milan Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Source document International journal of pediatric otorhinolaryngology. Vol. 140 (2021), art. no. 110499 Language eng - English Note open access URL URL link Document kind rozpis článkov z periodík (rbx) Citations JI, R.L. - TAO, Y.X. Mutations in rhodopsin, endothelin B receptor, and CC chemokine receptor 5 in large animals: Modeling human diseases. In LARGE ANIMALS AS MODELS FOR HUMAN DISEASES. ISSN 1877-1173, 2022, vol. 189, p. 155-178. Dostupné na: https://doi.org/10.1016/bs.pmbts.2022.02.003. HARYONO, A. - RAMADHIANI, R. - RYANTO, G.R.T. - EMOTO, N. Endothelin and the Cardiovascular System: The Long Journey and Where We Are Going. In BIOLOGY-BASEL. MAY 2022, vol. 11, no. 5. Dostupné na: https://doi.org/10.3390/biology11050759. BAILO, P.S. - GOñI-ROS, N. - GAZULLA, J. - DE ANDRéS, S.A. - ARNAL, I.R. - ALVAREZ, S.I. Three novel variants in iSOX10/i gene: Waardenburg and PCWH syndromes. In EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS. ISSN 1110-8630, MAR 6 2022, vol. 23, no. 1. Dostupné na: https://doi.org/10.1186/s43042-022-00270-4. Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2021 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.1016/j.ijporl.2020.110499 
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File name Access Size Downloaded Type License Novel variants in EDNRB gene in Waardenburg syndrome type II and SOX10 gene in PCWH syndrome.pdf available 3.6 MB 3 Publisher's version 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) 2021 2020 1.675 Q3 0.631 Q2
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