Kleefstra syndrome

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Kleefstra syndrome

  • About Kleefstra Syndrome
    • What is Kleefstra syndrome?
    • Living with Kleefstra syndrome
    • Facial Phenotypes
    • Kleefstra syndrome and KMT2C
    • About Dr. Kleefstra
  • Support
    • Research & Studies
    • GENIDA Digital Registry
    • Resources
    • Useful Links
    • Call-back Service
  • Awareness
    • Awareness Day
    • Kelsy the Kleefstra bear
    • Downloads
  • Events
    • Future Events
    • Past Events
  • Sign Up
  • About Us
    • Meet the Team
    • Mission Statement
    • Support Us
    • Easyfundraising
    • Partners
    • Contact Us
    • Our Policies

Resources

Home›Category: "Resources"
  • Resources
    By mousem
    23rd April 2019
    433
    0

    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 ...
    Read More
  • Resources
    By mousem
    6th January 2019
    723
    0

    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 ...
    Read More
  • Resources
    By mousem
    11th August 2018
    1705
    0

    Survey Results 2018

    The Kleefstra syndrome parent survey was carried out in June 2018 and was distributed over social media for parents or primary carers of people diagnosed with ...
    Read More
  • Resources
    By mousem
    3rd March 2018
    3578
    0

    Kleefstra syndrome infographic

    Here is a fantastic Kleefstra syndrome infographic you can show professionals who are triaging/working with your child – to tell them a bit about KS and ...
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  • Karlijn Vermeulen
    Resources
    By mousem
    14th May 2017
    2672
    0

    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 ...
    Read More
  • Dr. Miranda Coberman
    Resources
    By mousem
    8th January 2017
    1794
    0

    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 ...
    Read More
  • Marco Benevento article
    Resources
    By mousem
    30th July 2016
    744
    0

    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 ...
    Read More
  • Kleefstra syndrome Conference 2015
    Past EventsResources
    By mousem
    10th January 2016
    702
    0

    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 to learn ...
    Read More
  • Dr. Tjitske Kleefstra & Karlijn Vermeulen
    Resources
    By mousem
    30th September 2015
    834
    0

    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: ...
    Read More
  • GeneReviews
    Resources
    By mousem
    20th May 2015
    955
    0

    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, ...
    Read More
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