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gene variants
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MUDr. Klára Roženková Ph.D.
Academic staff at Second Faculty of Medicine
13 publications
Publications
publication
Congenital hyperinsulinism caused by novel homozygous katp channel gene variants may be linked to unexplained neonatal deaths among kurdish consanguineous families
2020 |
Second Faculty of Medicine
publication
Quality of Life and Treatment Satisfaction in Participants with Maturity-Onset Diabetes of the Young: A Comparison to Other Major Forms of Diabetes
2022 |
Second Faculty of Medicine, Faculty of Mathematics and Physics
publication
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study
2020 |
Second Faculty of Medicine
publication
Dětská mozková obrna
2020 |
Second Faculty of Medicine
publication
Poruchy vodní a elektrolytové rovnováhy u dětí: 50 let molekuly DDAVP
2019 |
Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial
2019 |
Second Faculty of Medicine
publication
Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
2017 |
Second Faculty of Medicine
publication
Severe Hyperinsulinaemic Hypoglycaemia in Beckwith-Wiedemann Syndrome due to Paternal Uniparental Disomy of 11p15.5 Managed with Sirolimus Therapy
2016 |
Second Faculty of Medicine
publication
Congenital hyperinsulinism: Loss of B-cell self-control
2016 |
Second Faculty of Medicine
publication
High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism
2015 |
Second Faculty of Medicine, First Faculty of Medicine, Third Faculty of Medicine
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