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

Germline AGO2 mutations impair RNA interference and human neurological development

ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era

National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies

Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism

Cohesin complex-associated holoprosencephaly

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies

Improving the diagnostic yield of exome-sequencing by predicting gene-phenotype associations using large-scale gene expression analysis

Rapid whole exome sequencing in critically ill children

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