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List of works by Gijs W E Santen

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 21 October 2020

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

scientific article published on 01 September 2019

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

scientific article published in November 2017

De novo loss-of-function mutations in WAC cause a recognizable intellectual disability syndrome and learning deficits in Drosophila

scientific article

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort

scientific article published in 2022

Exome sequencing in families with chronic central serous chorioretinopathy

scientific article published on 06 February 2019

From Trial and Error to Trial Simulation III: A Framework for Interim Analysis in Efficacy Trials With Antidepressant Drugs

scientific article published on March 2, 2011

Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

scientific article published on 19 June 2017

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

scientific article published on 01 October 2020

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects

scientific article

Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.

scientific article published on September 2015

Rare disease specialists and clinical pharmacologists unite: Increase collection of longitudinal data!

scientific article published on 04 September 2019

Response to Gorokhova et al

scientific article published on 20 May 2019

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

article

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