Marco Janner

Bern, BE 3010, Switzerland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 22 publications

Exome findings in children with short stature evaluated by growth hormone stimulation testing.

Exome findings in children with short stature evaluated by growth hormone stimulation testing.

Journal: European journal of endocrinology

Published: October 27, 2025

A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient.

A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson-Mendenhall Syndrome in a Paraguayan Patient.

Journal: International journal of molecular sciences

Published: November 07, 2023

Clinically practical pharmacometrics computer model to evaluate and personalize pharmacotherapy in pediatric rare diseases: application to Graves' disease.

Clinically practical pharmacometrics computer model to evaluate and personalize pharmacotherapy in pediatric rare diseases: application to Graves' disease.

Journal: Frontiers in medicine

Published: November 15, 2022

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.

Journal: Molecular syndromology

Published: June 29, 2022

Evidence for protein leverage in a general population sample of children and adolescents.

Evidence for protein leverage in a general population sample of children and adolescents.

Journal: European journal of clinical nutrition

Published: May 27, 2022

Impact of Type 1 Diabetes Mellitus on Bone Health in Children.

Impact of Type 1 Diabetes Mellitus on Bone Health in Children.

Journal: Hormone research in paediatrics

Published: October 29, 2021

Modest decrease in severity of obesity in adolescence associates with low arterial stiffness.

Modest decrease in severity of obesity in adolescence associates with low arterial stiffness.

Journal: Atherosclerosis

Published: January 18, 2021

Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study.

Modeling of levothyroxine in newborns and infants with congenital hypothyroidism: challenges and opportunities of a rare disease multi-center study.

Journal: Journal of pharmacokinetics and pharmacodynamics

Published: December 16, 2020

Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17β-Hydroxysteroid Dehydrogenase Activities.

Premature Adrenarche in Girls Characterized By Enhanced 17,20-Lyase and 17β-Hydroxysteroid Dehydrogenase Activities.

Journal: The Journal of clinical endocrinology and metabolism

Published: July 09, 2020

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta.

Journal: American journal of human genetics

Published: May 24, 2019

Prescription of vitamin D among Swiss pediatricians.

Prescription of vitamin D among Swiss pediatricians.

Journal: European journal of pediatrics

Published: April 15, 2019

Androgen production in pediatric adrenocortical tumors may occur via both the classic and/or the alternative backdoor pathway.

Androgen production in pediatric adrenocortical tumors may occur via both the classic and/or the alternative backdoor pathway.

Journal: Molecular and cellular endocrinology

Published: February 04, 2017

Showing 1-12 of 22

Last Updated: 09/26/2026