Publikace
- Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants2020 | 2. lékařská fakulta
- NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy2020 | 2. lékařská fakulta
- Etiologie a léčba novorozeneckého diabetu2019 | 2. lékařská fakulta
- 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 therapy2019 | 2. lékařská fakulta
- High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH2019 | 2. lékařská fakulta
- Screening of monogenic autoimmune diabetes among children with type 1 diabetes and multiple autoimmune diseases: is it worth doing?2019 | 2. lékařská fakulta
- Choledochal Cyst with 17q12 Chromosomal Duplication2018 | 2. lékařská fakulta
- Monogenní formy autoimunitního diabetu jako součást dysregulace imunitního systému2018 | 2. lékařská fakulta
- Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?2017 | 2. lékařská fakulta
- MODY in Ukraine: genes, clinical phenotypes and treatment2017 | 2. lékařská fakulta
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