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KCNJ11
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Could a combination of heterozygous ABCC8 and KCNJ11 mutations cause congenital hyperinsulinism?
2017 |
Second Faculty of Medicine
publication
Aetiology and treatment of neonatal diabetes
2019 |
Second Faculty of Medicine
publication
Mutations in the gene encoding the Kir6.2 calcium channel subunit as another onset of neonatal diabetes
2006 |
Second Faculty of Medicine
publication
Sulphonylurea treatment does not improve psychomotor development in children with KCNJ11 mutations causing permanent neonatal diabetes mellitus accompanied by developmental delay and epilepsy (DEND syndrome)
2007 |
Second Faculty of Medicine
publication
KCNJ11 E23K polymorphism and diabetes mellitus with adult onset in Czech patients
2007 |
Third Faculty of Medicine
publication
Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study
2018 |
Second Faculty of Medicine
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
Neonatal Diabetes Mellitus Caused by Activation Mutation in the Gene Encoding the Kir6.2 Subunit of Potassium Channel: Is Insulindependency Inevitably Life-long?
2005 |
Third Faculty of Medicine, Second Faculty of Medicine, First Faculty of Medicine, Faculty of Physical Education and Sport
publication
Congenital hyperinsulinism: Loss of B-cell self-control
2016 |
Second Faculty of Medicine
publication
Treatment of diabetes in small children
2019 |
Second Faculty of Medicine
publication
Activating Mutations in the Gene Encoding the ATP-Sensitive Potassium-Channel Subunit Kir6.2 and Permanent Neonatal Diabetes
2004 |
Second Faculty of Medicine
publication
Aetiological heterogeneity of asymptomatic hyperglycaemia in children and adolescents
2006 |
Third Faculty of Medicine, Second Faculty of Medicine
publication
The Diagnosis and Management of Hyperinsulinaemic Hypoglycaemia
2015 |
Second Faculty of Medicine
publication
Reprogramming of Human Pancreatic Organoid Cells into Insulin-Producing beta-Like Cells by Small Molecules and in Vitro Transcribed Modified mRNA Encoding Neurogenin 3 Transcription Factor
2019 |
First Faculty of Medicine, Faculty of Physical Education and Sport
publication
The invaluable role of consanguinity in providing insight into paediatric endocrine conditions: Lessons learned from congenital hyperinsulinism, monogenic diabetes, and short stature
2022 |
Second Faculty of Medicine
publication
Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia
2012 |
Faculty of Medicine in Pilsen
publication
High incidence of heterozygous ABCC8 and HNF1A mutations in Czech patients with congenital hyperinsulinism
2015 |
Third Faculty of Medicine, Second Faculty of Medicine, First Faculty of Medicine