Publications by authors named "C Stekelenburg"

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Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity.
Caroline Stekelenburg, Jean-Louis Blouin, Federico Santoni, Norann Zaghloul, Elisabeth A O'Hare

Sci Rep· August 2022

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Correction to: Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.
Karolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, Emmanuelle Ranza, Giacomo Gastaldi

Hum Genomics· January 2021

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Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase.
Karolina Luczkowska, Caroline Stekelenburg, Frédérique Sloan-Béna, Emmanuelle Ranza, Giacomo Gastaldi

Hum Genomics· March 2020

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Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes.
Caroline Stekelenburg, Karine Gerster, Jean-Louis Blouin, Mariarosaria Lang-Muritano, Michel Guipponi

Pediatr Diabetes· May 2019

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Perforator-based flaps for the treatment of burn scar contractures: a review.
C M Stekelenburg, R E Marck, P D H M Verhaegen, K W Marck, P P M van Zuijlen

Burns Trauma· February 2017

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