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Severity of ATAD3A-related pontocerebellar hypoplasia correlates with severity of mutations
Title Severity of ATAD3A-related pontocerebellar hypoplasia correlates with severity of mutations Author Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV SCOPUS RID ORCID Co-authors Rambani Vibhuti SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV SCOPUS RID ORCID Štufková Hana Stranecky Viktor Brennerová Katarína Kolníková Miriam Pietrzyková Michaela Hansiková Hana Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV SCOPUS RID ORCID Source document European Journal of Human Genetics. Vol. 31, suppl. S1 (2023), p. 422. - London : Springer Nature Language eng - English Country GB - Great Britian 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 z podujatia Year 2024 Registered in WOS article
rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2023 2022 5.2 Q1 1.764 Q1
Number of the records: 1