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Molecular diagnostic challenges of repeat expansion disorders in the era of genome scale DNA sequencing: the myotonic dystrophy example
Title Molecular diagnostic challenges of repeat expansion disorders in the era of genome scale DNA sequencing: the myotonic dystrophy example Author Radvánszky Ján 1982- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV Co-authors Budiš J. Kucharík Marcel Kádaši Ľudevít 1952- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV ORCID Szemes Tomáš Source document European Journal of Human Genetics. Vol. 27, suppl. 2 (2019), p. 1646-1647 Language eng - English Document kind rozpis článkov z periodík (rzb) Category AEMA - Abstracts of scientific papers published in foreign impacted journals registered in Web of Science Core Collection or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document abstrakt Year 2019 Registered in WOS article
rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore N rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2019 2018 3.650 Q2 1.835 Q1
Number of the records: 1