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gene cause
Person
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Person
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prof. MUDr. Tomáš Seeman CSc.
Academic staff at Second Faculty of Medicine
240 publications
Publications
publication
Severe hypercalcemic crisis in an infant with idiopathic infantile hypercalcemia caused by mutation in CYP24A1 gene
2013 |
Second Faculty of Medicine
publication
Autosomal Recessive and Dominant Polycystic Kidney Disease
1999 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Blood pressure, renal function and morphology in children with autosomal dominant polycystic kidney disease
1999 |
Second Faculty of Medicine
publication
Diversity of kidney care referral pathways in national child health systems of 48 European countries
2024 |
Second Faculty of Medicine
publication
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease
2023 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Heterozygous variants in the DVL2 interaction region of DACT1 cause CAKUT and features of Townes-Brocks syndrome 2
2023 |
Second Faculty of Medicine
publication
Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension
2023 |
Second Faculty of Medicine
publication
Tolvaptan for Children and Adolescents with Autosomal Dominant Polycystic Kidney Disease: Randomized Controlled Trial
2023 |
Second Faculty of Medicine
publication
Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease
2023 |
Second Faculty of Medicine
publication
Unattended automated office blood pressure measurement in children
2023 |
Second Faculty of Medicine
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