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RNDr. Petra Dušátková Ph.D.
External academic staff at Second Faculty of Medicine
68 publications
Publications
publication
Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants
2020 |
Second Faculty of Medicine
publication
Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study
2016 |
Second Faculty of Medicine
publication
High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism
2015 |
Second Faculty of Medicine, Third Faculty of Medicine, First Faculty of Medicine
publication
Renal cysts and diabetes syndrome
2015 |
Second Faculty of Medicine
publication
SNPman: a program for genotype calling using run data from TaqMan allelic discrimination
2011 |
Second Faculty of Medicine, Central Library of Charles University
publication
The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)
2024 |
Second Faculty of Medicine
publication
Integrative role of the SALL4 gene: From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary
2024 |
Second Faculty of Medicine
publication
SALL4 phenotype in four generations of one family: An interplay of the upper limb, kidneys, and the pituitary
2024 |
Second Faculty of Medicine
publication
Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq
2024 |
Second Faculty of Medicine
publication
Genetic testing of children with familial tall stature: is it worth doing?
2024 |
Second Faculty of Medicine
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