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List of works by Klaske D Lichtenbelt

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder

scientific article

Characteristic MR Imaging Findings of the Neonatal Brain in RASopathies

scientific article published on 5 April 2018

Erratum: Corrigendum to: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Erratum: The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scholarly article published in European Journal of Human Genetics

Identification of human D lactate dehydrogenase deficiency

scientific article published on 01 April 2019

Preimplantation Genetic Testing for Monogenic Kidney Disease

scientific article published on 27 August 2020

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype

scientific article

The Effectiveness of an Online Decision Aid on Reproductive Options for Couples at Risk of Transmitting a Genetic Disease to their Offspring: Protocol for a Randomized Controlled Trial

scientific article published in 2023

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