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Transients
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RNDr. Petra Dušátková Ph.D.
External academic staff at Second Faculty of Medicine
68 publications
Publications
publication
Aetiology and treatment of neonatal diabetes
2019 |
Second Faculty of Medicine
publication
Short stature in a boy with atypical progeria syndrome due to LMNA c.433G>A [p.(Glu145Lys)]: Apparent growth hormone deficiency but poor response to growth hormone therapy
2019 |
Second Faculty of Medicine
publication
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
2017 |
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
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes
2016 |
Second Faculty of Medicine
publication
HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes
+1
2011 |
Second Faculty of Medicine, Third Faculty of Medicine
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
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