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hereditary nonpolyposis
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MUDr. Michaela Mihulová
External person at Second Faculty of Medicine
7 publications
Publications
publication
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders
2024 |
Second Faculty of Medicine
publication
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood
2023 |
First Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové, Third Faculty of Medicine
publication
Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models
2023 |
Second Faculty of Medicine, Faculty of Science
publication
Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene
2023 |
Second Faculty of Medicine
publication
Objasnenie príčiny dysplázie genitálu u syna a jeho otca
2023 |
Second Faculty of Medicine
publication
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant
2022 |
Second Faculty of Medicine
publication
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes
2020 |
Central Library of Charles University, First Faculty of Medicine, Second Faculty of Medicine
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