Publikace
- Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study2016 | 2. lékařská fakulta
- 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
- Chronic Mild Hyperglycemia in GCK-MODY Patients Does Not Increase Carotid Intima-Media Thickness2013 | Matematicko-fyzikální fakulta, 2. lékařská fakulta, 3. lékařská fakulta
- MODY diabetes: co bychom měli vědět pro správnou diagnózu a léčbu?2012 | 2. lékařská fakulta
- HNF1A mutation presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes +12011 | 2. lékařská fakulta, 3. lékařská fakulta
- Familial mild hyperglycemia associated with a novel ABCC8-V84I mutation within three generations2011 | 2. lékařská fakulta, 3. 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
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