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A novel pathogenic WDR45 variant in male patient and male/female different phenotype spectrum
Title A novel pathogenic WDR45 variant in male patient and male/female different phenotype spectrum : EPNS23-2753. Neurogenetics Disorders Author Radová Silvia Co-authors Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Kolníková Miriam Source document 15th Congress of the European Paediatric Neurology Society (EPNS) 2023 : Abstract book. S. 512. - Prague, Czech Republic, 2023 Language eng - English Country CZ - Czech Republic Document kind rozpis článkov z periodík (rzb) Category GII - Other publications and documents which is not possible to categorize into classes/categories mentioned above Category of document (from 2022) O2 - Odborný výstup publikačnej činnosti ako časť knižnej publikácie alebo zborníka Type of document abstrakt z podujatia Year 2023 
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rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2023
Number of the records: 1