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Publicaties

Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review

The role of TBX18 in congenital heart defects in humans not confirmed

Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects

Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries

First Genotype-Phenotype Study in TBX4 Syndrome Gain-of-Function Mutations Causative for Lung Disease

TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility

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