Department of Pediatrics and medical genetics
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- 2015
- MIBG scans in patients with stage 4 neuroblastoma reveal two metastatic patterns, one is associated with MYCN amplification and in MYCN-amplified tumours correlates with a better prognosis
- Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion
- Revised risk estimation and treatment stratification of low- and intermediate-risk neuroblastoma patients by integrating clinical and molecular prognostic markers
- An abnormally glycosylated isoform of erythropoietin in hemangioblastoma is associated with polycythemia
- Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity
- Non-coding RNAs and respiratory disease
- 2014
- Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene
- Can APOE and MTHFR polymorphisms have an influence on the severity of cardiovascular manifestations in Italian Pseudoxanthoma elasticum affected patients?
- Wat is het antidepressieve effect van agomelatine?
- De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation