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targeted sequencing
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RNDr. Veronika Moslerová Ph.D.
Academic staff at Second Faculty of Medicine
29 publications
Publications
publication
The Human Phenotype Ontology in 2024: phenotypes around the world
2024 |
Second Faculty of Medicine
publication
A new patient with congenital myasthenic syndrome type 20 due to compound heterozygous missense SLC5A7 variants suggests trends in genotype-phenotype correlation
2023 |
Second Faculty of Medicine, First Faculty of Medicine
publication
Cluster analysis of facial phenotypes in autism spectrum disorders based on 3D facial models
2023 |
Faculty of Science, Second Faculty of Medicine
publication
Geometric morphometrics of face in patients with cleft palate
2022 |
Second Faculty of Medicine, Third 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
Facial soft tissues changes following maxillary expansion
+1
2021 |
Second Faculty of Medicine
publication
Neonatal case reports
2020 |
Second Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Early diagnosis of pycnodysostosis in a Czech toddler: a case report
2020 |
Second Faculty of Medicine
publication
3D facial morphometry in patients with oculo-auriculo-vertebral spectrum
2019 |
Second Faculty of Medicine, Third Faculty of Medicine
publication
Enabling Global Clinical Collaborations on Identifiable Patient Data: The Minerva Initiative
2019 |
Second Faculty of Medicine
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