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Molecular diagnostic challenges of repeat expansion disorders in the era of genome scale DNA sequencing: the myotonic dystrophy example

  1. TitleMolecular 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
    Languageeng - English
    Document kindrozpis článkov z periodík (rzb)
    CategoryAEMA - 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 documentabstrakt
    Year2019
    Registered inWOS
    article

    article

    rokCCIFIF Q (best)JCR Av Jour IF PercSJRSJR Q (best)CiteScore
    N
    rok vydaniarok metrikyIFIF Q (best)SJRSJR Q (best)
    201920183.650Q21.835Q1
Number of the records: 1  

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