Publikace
- Functional Analyses of HNF1A-MODY Variants Refine the Interpretation of Identified Sequence Variants2020 | 2. lékařská fakulta
- Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study2016 | 2. lékařská fakulta
- The dynamic changes of zinc transporter 8 autoantibodies in Czech children from the onset of Type 1 diabetes mellitus2014 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- De novo mutations of GCK, HNF1A and HNF4A may be more frequent in MODY than previously assumed2014 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- Ancestral mutations may cause a significant proportion of GCK-MODY2012 | 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
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