Publikace
- Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants2020 | 2. lékařská fakulta
- The Common p.R114W HNF4A Mutation Causes a Distinct Clinical Subtype of Monogenic Diabetes2016 | 2. lékařská fakulta
- HbA1c-based diabetes diagnosis among patients with glucokinase mutation (GCK-MODY) is affected by a genetic variant of glucose-6-phosphatase (G6PC2)2012 | 2. lékařská fakulta
- The genetic landscape of children born small for gestational age with persistent short stature (SGA-SS)2024 | 2. lékařská fakulta
- Integrative role of the SALL4 gene: From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary2024 | 2. lékařská fakulta
- SALL4 phenotype in four generations of one family: An interplay of the upper limb, kidneys, and the pituitary2024 | 2. lékařská fakulta
- Paediatric diabetes subtypes in a consanguineous population: a single-centre cohort study from Kurdistan, Iraq2024 | 2. lékařská fakulta
- Genetic testing of children with familial tall stature: is it worth doing?2024 | 2. lékařská fakulta
- Monogenic diabetes mellitus hidden in autoantibody-negative diabetes mellitus2023 | 2. lékařská fakulta
- Isolated growth hormone deficiency in children with vertically transmitted short stature: What do the genes tell us?2023 | 2. lékařská fakulta
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