Number of the records: 1
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability
Title ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability Author Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Co-authors Štufková Hana Rambani Vibhuti SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Stránecký Viktor Brennerová Katarína Kolníková Miriam Pietrzyková Michaela Karhánek Miloslav SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Nosková Lenka Tesárová Markéta Hansíková Hana Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Source document Orphanet Journal of Rare Diseases. Vol. 18, no. 1 (2023), art. no. 92 Language eng - English Country GB - Great Britian Note open access URL URL link Document kind rozpis článkov z periodík (rbx) Category ADMA - Scientific papers in foreign impacted journals registered in Web of Sciences or Scopus Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2023 Registered in WOS Registered in SCOPUS DOI 10.1186/s13023-023-02689-3 
article
File name Access Size Downloaded Type License ATAD3Arelated pontocerebellar hypoplasia.pdf available 1.8 MB 3 Publisher's version 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) 2023 2022 3.7 Q2 1.12 Q1
Number of the records: 1