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List of works by Sandra Jansen

A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency

scientific article published on 5 December 2017

Biallelicframeshift mutation in RIN2 in a patient with intellectual disability and cataract, without RIN2 syndrome

scientific article published on 19 October 2017

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

De novo variants in FBXO11 cause a syndromic form of intellectual disability with behavioral problems and dysmorphisms

scientific article published on 24 January 2019

Overrepresentation of genetic variation in the AnkyrinG interactome is related to a range of neurodevelopmental disorders

scientific article published on 10 July 2020

Quantification of Phenotype Information Aids the Identification of Novel Disease Genes

scientific article published on 2 February 2017

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

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