Publikace
- NPR2 Variants Are Frequent among Children with Familiar Short Stature and Respond Well to Growth Hormone Therapy2020 | 2. lékařská fakulta
- High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH2019 | 2. lékařská fakulta
- Short Stature in a Boy with Multiple Early-Onset Autoimmune Conditions due to a STAT3 Activating Mutation: Could Intracellular Growth Hormone Signalling Be Compromised?2017 | 2. lékařská fakulta
- Novel calcium-sensing receptor cytoplasmic tail deletion mutation causing autosomal dominant hypocalcemia: molecular and clinical study2016 | 2. lékařská fakulta
- High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism2015 | 2. lékařská fakulta, 3. lékařská fakulta, 1. lékařská fakulta
- Játra, ledviny a diabetes: tři tváře deficitu genu HNF1B2014 | 2. lékařská fakulta, 1. lékařská fakulta, Fakulta tělesné výchovy a sportu
- MODY diabetes: co bychom měli vědět pro správnou diagnózu a léčbu?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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