Published KS Research & Studies
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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. ... -
Phenotyping the EHMT1 Mouse
An interesting article written by Monique Balemans titled “Phenotyping the EHMT1 Mouse – a model for Kleefstra syndrome. Kleefstra syndrome (KS) is a form of syndromic ...
