Caroline Stekelenburg

Affiliations

Faculty Diabetes Center, University of Geneva Medical Center, 1206, Geneva, Switzerland.
Pediatric Endocrine and Diabetes Unit, Department of Pediatrics Gynecology and Obstetrics, University Hospitals of Geneva, Geneva, Switzerland.

Publications (3)

Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.

Human genomics

Avec: Karolina Luczkowska , Caroline Stekelenburg , Frédérique Sloan-Béna , Emmanuelle Ranza , Giacomo Gastaldi , Valérie Schwitzgebel , Pierre Maechler

Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes.

Pediatric diabetes

Avec: Caroline Stekelenburg , Karine Gerster , Jean-Louis Blouin , Mariarosaria Lang-Muritano , Michel Guipponi , Federico Santoni , Valerie M Schwitzgebel

Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity.

Scientific reports

Avec: Caroline Stekelenburg , Jean-Louis Blouin , Federico Santoni , Norann Zaghloul , Elisabeth A O'Hare , Rodolphe Dusaulcy , Pierre Maechler , Valerie M Schwitzgebel

Réseau de co-auteurs

Pierre Maechler 2 collaborations

Jean-Louis Blouin 2 collaborations

Federico Santoni 2 collaborations

Valerie M Schwitzgebel 2 collaborations

Karolina Luczkowska 1 collaboration

Frédérique Sloan-Béna 1 collaboration

Emmanuelle Ranza 1 collaboration

Giacomo Gastaldi 1 collaboration

Valérie Schwitzgebel 1 collaboration

Karine Gerster 1 collaboration

Mariarosaria Lang-Muritano 1 collaboration

Michel Guipponi 1 collaboration

Norann Zaghloul 1 collaboration

Elisabeth A O'Hare 1 collaboration

Rodolphe Dusaulcy 1 collaboration