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Kleefstra syndrome

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Support

Home›Front Page›Category: "Support" (Page 7)
  • All Events

    UK Social Meet 2016

    By mousem
    11 July 2016
    The weekend of 17th/18th September saw an informal get together of Kleefstra families in Bournemouth, UK.  The weekend provided a great opportunity meet, catch ...
    Read More
  • FIND - Further Inform Neurogenetic Disorders
    News and Resources

    KS Discussion videos by FIND

    By mousem
    19 January 2016
    During the 2015 conference researchers from The Cerebra Centre for Neurodevelopmental Disorders filmed some fantastic videos of families discussing their experiences with Ks.  The ...
    Read More
  • Kleefstra syndrome Conference 2015
    All EventsUK Conferences

    KS Conference 2015 Summary

    By mousem
    10 January 2016
    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 ...
    Read More
  • Dr. Tjitske Kleefstra & Karlijn Vermeulen
    KS Research & Studies

    Karlijn Vermeulen – new paper published

    By mousem
    30 September 2015
    Karlijn Vermeulen (guest speaker of the 2015 conference) has had a new paper published called ‘From a single gene defect towards a cross species ...
    Read More
  • GeneReviews
    KS Research & Studies

    GeneReviews update

    By mousem
    20 May 2015
    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, ...
    Read More
  • BioMed Central
    KS Research & Studies

    Intragenic Duplication

    By mousem
    24 October 2014
    A case report posted on Molecular Cytogenetics section of BioMed Central has reported the first description on an intragenic duplication of EHMT1 resulting in ...
    Read More
  • Monique Balemans
    KS Research & Studies

    Phenotyping the EHMT1 Mouse

    By mousem
    20 August 2013
    An interesting article written by Monique Balemans titled “Phenotyping the EHMT1 Mouse – a model for Kleefstra syndrome. Kleefstra syndrome (KS) is a form ...
    Read More
  • 2013 Kleefstra conference Report
    All EventsUK Conferences

    KS Conference 2013

    By mousem
    15 May 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 ...
    Read More
  • Unique Study Weekend 2010
    KS Research & StudiesNews and Resources

    Unique Study Weekend 2010

    By mousem
    20 July 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 ...
    Read More
  • Kleefstra Syndrome Unique Leaflet 2010
    KS Research & StudiesNews and Resources

    Unique KS Leaflet

    By mousem
    27 April 2010
    Unique updated their leaflet after the 2010 study day held in the UK. Download PDF  
    Read More
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