Iwar Klimes

Bratislava, BL, Slovakia

Last Updated: 09/26/2026

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Found 35 publications

Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome.

Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome.

Journal: Physiological research

Published: January 06, 2018

Sulfonylurea vs insulin therapy in individuals with sulfonylurea-sensitive permanent neonatal diabetes mellitus, attributable to a KCNJ11 mutation, and poor glycaemic control.

Sulfonylurea vs insulin therapy in individuals with sulfonylurea-sensitive permanent neonatal diabetes mellitus, attributable to a KCNJ11 mutation, and poor glycaemic control.

Journal: Diabetic medicine : a journal of the British Diabetic Association

Published: December 19, 2017

DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.

DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.

Journal: Seizure

Published: December 15, 2017

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.

Effectiveness and safety of long-term treatment with sulfonylureas in patients with neonatal diabetes due to KCNJ11 mutations: an international cohort study.

Journal: The lancet. Diabetes & endocrinology

Published: September 29, 2017

Actual trends in diagnostics and treatment of congenital hyperinsulinism

Actual trends in diagnostics and treatment of congenital hyperinsulinism

Journal: Vnitrni lekarstvi

Published: December 07, 2016

Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.

Congenital hyperinsulinism and glycogenosis-like phenotype due to a novel HNF4A mutation.

Journal: Diabetes research and clinical practice

Published: December 02, 2016

Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents.

Genetic analysis of single-minded 1 gene in early-onset severely obese children and adolescents.

Journal: PloS one

Published: November 18, 2016

The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.

The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.

Journal: Physiological research

Published: November 09, 2016

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO.

Journal: Human mutation

Published: October 19, 2016

Genetic testing of familial hypercholesterolemia in a real clinical setting.

Genetic testing of familial hypercholesterolemia in a real clinical setting.

Journal: Wiener klinische Wochenschrift

Published: April 12, 2016

Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.

Two novel RFX6 variants in siblings with Mitchell-Riley syndrome with later diabetes onset and heterotopic gastric mucosa.

Journal: European journal of medical genetics

Published: April 06, 2016

Molecular-genetic aspects of familial hypercholesterolemia.

Molecular-genetic aspects of familial hypercholesterolemia.

Journal: Endocrine regulations

Published: August 05, 2015

Showing 1-12 of 35

Last Updated: 09/26/2026