Published KS Research & Studies
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The Impact of Rare Genetic Disorders on Family Functioning
Karlijn Vermeulen (Pediatric psychiatrist and clinical researcher at Radboud UMC in Nijmegen) recently published an article about the enhanced levels of stress that parents with a ... -
PubMed – List of published KS research
PubMed comprises more than 26 million citations for biomedical literature from MEDLINE, life science journals, and online books. This is a regularly updated list of Ks ... -
Research update from Radboud UMC
Kleefstrasyndrome.org recently contacted Dr Kleefstra and the team at RadboudUMC, Nijmegen for an update on current Kleefstra Syndrome research. We had received a number of questions ... -
Introducing new KS researcher
At the UK conference in August 2018 Dr. Kleefstra indicated that due to being successful in a bid for funding her team would be looking to ... -
Adaptive and maladaptive functioning in Ks
Karlijn Vermeulen (Pediatric psychiatrist and clinical researcher at Radboud UMC in Nijmegen) has had a new paper published called ‘Adaptive and maladaptive functioning in Kleefstra syndrome ... -
Kleefstra syndrome and mental health
As a parent of a child with Kleefstra syndrome, one of my greatest fears is the future, having read about the syndrome and the psychiatric issues ... -
New paper published by Marco Benevento
Marco Benevento (guest speaker at the 2013 conference) has had a new paper published called ‘Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates Homeostatic Synaptic ... -
Karlijn Vermeulen – new paper published
Karlijn Vermeulen (guest speaker of the 2015 conference) has had a new paper published called ‘From a single gene defect towards a cross species neurocognitive phenotype: ... -
GeneReviews update
GeneReviews, are an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardised journal-style format, covering diagnosis, ... -
Intragenic Duplication
A case report posted on Molecular Cytogenetics section of BioMed Central has reported the first description on an intragenic duplication of EHMT1 resulting in Kleefstra syndrome. ...
