MUDr. Kateřina Slabá
Instructor, Department of Pediatrics
Total number of publications: 46
2023
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Aminoacylase 1 deficiency: the first Czech patient
Year: 2023, type: Conference abstract
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COVID-19-Associated Paediatric Inflammatory Multisystem Syndrome (PIMS-TS) in Intensive Care: A Retrospective Cohort Trial (PIMS-TS INT)
Children, year: 2023, volume: 10, edition: 2, DOI
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Deficit aminoacylázy 1: kazuistika
Year: 2023, type: Conference abstract
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Lékařská biologie II. Genetika a molekulární medicína
Year: 2023, edition: Vyd. 1., number of pages: 227 s.
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Multivariate linear mixture models for the prediction of febrile seizure risk and recurrence: a prospective case-control study
Nature Scientific Reports, year: 2023, volume: 13, edition: 1, DOI
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První český pacient s deficitem aminoacylázy 1
CESKA A SLOVENSKA NEUROLOGIE A NEUROCHIRURGIE, year: 2023, volume: 86, edition: 1, DOI
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Případ chlapce s glykogenózou IXa
Year: 2023, type: Conference abstract
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Sotosův syndrom
Year: 2023, type: Conference abstract
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Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
MOLECULAR GENETICS & GENOMIC MEDICINE, year: 2023, volume: 11, edition: 5, DOI
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Využitelnost celoexomového sekvenování v diagnostice a léčbě vzácných a dříve nediagnostikovaných onemocnění: naše první zkušenosti
Year: 2023, type: Conference abstract