CS
Stekelenburg, Caroline
| Title | Published in | Access level | OA Policy | Year | Views | Downloads | |
|---|---|---|---|---|---|---|---|
| Loss of Nexmif results in the expression of phenotypic variability and loss of genomic integrity | Scientific reports |  | 2022 | 231 | 205 | ||
| Hyperinsulinism associated with GLUD1 mutation: allosteric regulation and functional characterization of p.G446V glutamate dehydrogenase | Human Genomics | | 2020 | 487 | 325 | ||
| Exome sequencing identifies a de novo FOXA2 variant in a patient with syndromic diabetes | Pediatric Diabetes |  | 2019 | 366 | 3 | ||
| Characterization of KIAA2022 and generation of knock-out mice indicates a role in maintaining genomic stability | | 2019 | 777 | 9 | |||
| Genetic Defects of the β-Cell That Cause Diabetes | Endocrine development | | 2016 | 641 | 3 | ||
| Gene Variants Associated with Transient Neonatal Diabetes Mellitus in the Very Low Birth Weight Infant | Hormone research in paediatrics | | 2015 | 574 | 2 |
