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
- 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
- MODY in Ukraine: genes, clinical phenotypes and treatment2017 | 2. lékařská fakulta
- Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes2017 | 2. lékařská fakulta
- Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study2016 | 2. lékařská fakulta
- Substantial proportion of MODY among multiplex families participating in a Type 1 diabetes prediction programme2016 | 2. lékařská fakulta
- The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes2016 | 2. lékařská fakulta
- Frameshift mutations in the insulin gene leading to prolonged molecule of insulin in two families with Maturity-Onset Diabetes of the Young2015 | 2. lékařská fakulta, 3. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
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