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NR5A1
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Mgr. Júlia Martinková
External person at Second Faculty of Medicine
5 publications
Publications
publication
Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene
2023 |
Second 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
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
Genetic heterogeneity of megacystis-microcolon-intestinal hypoperistalsis syndrome
Publication without faculty affiliation
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