ℹ️
🇨🇿
Hledání
Hledat osoby relevantní k dotazu "Variant"
Variant
Osoba
Předměty
Osoby
Publikace
Studium
RNDr. Petra Dušátková Ph.D.
Externí akademický pracovník na 2. lékařská fakulta
68 publikací
Publikace
publication
Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants
2020 |
2. lékařská fakulta
publication
NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy
2020 |
2. lékařská fakulta
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 |
2. lékařská fakulta
publication
High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH
2019 |
2. lékařská fakulta
publication
Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?
2019 |
2. lékařská fakulta
publication
MODY in Ukraine: genes, clinical phenotypes and treatment
2017 |
2. lékařská fakulta
publication
Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes
2017 |
2. lékařská fakulta
publication
Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations
2016 |
2. lékařská fakulta
publication
The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes
2016 |
2. lékařská fakulta
publication
Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review
2015 |
2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
Načíst další publikace (58)
Loading network view...