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Authors whose works are in public domain in at least one jurisdiction

List of works by Eric Haan

1-11 of 11 results

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

scientific article
Refining analyses of copy number variation identifies specific genes associated with developmental delay

scientific article
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

scientific article
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

scientific journal article
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability

scientific journal article
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems

scientific article published on 6 October 2015
Non-coding VMA21 deletions cause X-linked myopathy with excessive autophagy

scientific article published on 26 November 2014
Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome.

scientific article published on 28 April 2015
Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

article
Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019
Lamin A/C mutation: An easily missed opportunity.

scientific article

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