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The first Slovak Legius syndrome patient carrying the SPRED1 gene mutation

  1. TitleThe first Slovak Legius syndrome patient carrying the SPRED1 gene mutation
    Author Sekelská Martina
    Co-authors Briatková Lenka

    Olčák T.

    Bolčeková Anna

    Ilenčíková Denisa

    Kádaši Ľudevít 1952- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV    ORCID

    Zaťková Andrea 1971- SAVBIOMED ; SAVUKTRA - Biomedicínske centrum SAV    SCOPUS    RID    ORCID

    Source document General Physiology and Biophysics. Vol. 36, no. 2 (2017) p. 205-210
    Languageeng - English
    CountrySK - Slovak Republic
    Document kindrozpis článkov z periodík (rbx)
    CitationsBORRIE, S.C. - PLASSCHAERT, E. - CALLAERTS-VEGH, Z. - YOSHIMURA, A. - D'HOOGE, R. - ELGERSMA, Y. - KUSHNER, S.A. - LEGIUS, E. - BREMS, H. MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders. In MOLECULAR AUTISM. ISSN 2040-2392, JUL 26 2021, vol. 12, no. 1.
    PETRAK, B. - ZEMKOVA, D. - SEEMAN, P. - TESNER, P. - POUROVA, R.K. Monozygotic twins with Legius syndrome and differential diagnosis of Legius syndrome and neurofibromatosis type 1. In CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE. ISSN 1210-7859, 2021, vol. 84, no. 2, p. 211-213.
    CategoryADDA - Scientific papers in domestic journals registered in Current Contents Connect with IF (impacted)
    Category of document (from 2022)V3 - Vedecký výstup publikačnej činnosti z časopisu
    Type of documentčlánok
    Year2017
    Registered inWOS
    Registered inSCOPUS
    Registered inCCC
    DOI 10.4149/gpb_2016032
    article

    article

    rokCCIFIF Q (best)JCR Av Jour IF PercSJRSJR Q (best)CiteScore
    A
    rok vydaniarok metrikyIFIF Q (best)SJRSJR Q (best)
    201720161.170Q40.378Q3
Number of the records: 1  

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