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KS Conference 2015 Summary
In August 2015 we hosted our second conference in Coventry, UK. Once again we were fully booked with 37 families attending from around the world ...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 ...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, ...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 ...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 ...KS Conference 2013
After the successful Kleefstra study weekend organised by Unique back in 2010, on the weekend of 9th-11th August 2013 we held our first Ks ...Unique Study Weekend 2010
In April 2010 Unique hosted a weekend event for families of children with Ks. The weekend provided a rare opportunity for parents to get ...Unique KS Leaflet
Unique updated their leaflet after the 2010 study day held in the UK. Download PDF