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E-deficient
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RNDr. Petra Dušátková Ph.D.
External academic staff at Second Faculty of Medicine
68 publications
Publications
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
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH
2019 |
Second Faculty of Medicine
publication
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
2017 |
Second Faculty of Medicine
publication
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
2016 |
Second Faculty of Medicine
publication
High Prevalence of PROP1 Defects in Lithuania: Phenotypic Findings in an Ethnically Homogenous Cohort of Patients With Multiple Pituitary Hormone Deficiency
2014 |
Second Faculty of Medicine
publication
Anophthalmia, hearing loss, abnormal pituitary development and response to growth hormone therapy in three children with microdeletions of 14q22q23
2014 |
Second Faculty of Medicine
publication
Is genetic testing in children with growth hormone deficiency clinically justified?
2013 |
Second Faculty of Medicine
publication
Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations
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
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