Publikace
- Choledochal Cyst with 17q12 Chromosomal Duplication2018 | 2. lékařská fakulta
- Novel glucokinase gene mutation in the first Macedonian family tested for MODY2017 | 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
- Hepatic phenotypes of HNF1B gene mutations: A case of neonatal cholestasis requiring portoenterostomy and literature review2015 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism2015 | 2. lékařská fakulta, 3. lékařská fakulta, 1. 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
- 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
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