Publikace
- 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
- High Prevalence of PROP1 Defects in Lithuania: Phenotypic Findings in an Ethnically Homogenous Cohort of Patients With Multiple Pituitary Hormone Deficiency2014 | 2. lékařská fakulta
- SNPman: a program for genotype calling using run data from TaqMan allelic discrimination2011 | 2. lékařská fakulta, Ústřední knihovna
- Jak genetické vyšetření může pomoci ve výběru vhodné léčby diabetika2010 | 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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