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breed in kennis  -  sterk in techniek
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Publicaties

A multidisciplinary RNA-guided approach to complement genomic analysis of unsolved patients with an inborn error of immunity

Systematic functional validation of IKAROS variants from patients and laboratory-generated mutations

AA amyloidosis in a father and daughter as complication of PSTPIP1-associated myeloid-related proteinemia inflammatory (PAMI) syndrome

Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

Identification of DNA methylation episignature for the intellectual developmental disorder, autosomal dominant 21 syndrome, caused by variants in the CTCF gene

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Epilepsy is an important feature of KBG syndrome associated with poorer developmental outcome

POU3F3-related disorder: Defining the phenotype and expanding the molecular spectrum

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

De novoARHGEF9missense variants associated with neurodevelopmental disorder in females: expanding the genotypic and phenotypic spectrum ofARHGEF9disease in females

Sustainable Development Goals

SDG 3 – Goede gezondheid en welzijn

Meer informatie over de Sustainable Development Goals.