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
    • Call-back Service
    • Published KS Research & Studies
    • Resources
    • GENIDA Digital Registry
    • Useful Links
  • Awareness
    • Awareness Day
    • Downloads
  • Events
    • Future Events
    • Past Events
  • Sign Up
  • About Us
    • Meet the Team
    • Mission Statement
    • Support Us
    • Easyfundraising
    • Partners
    • Contact Us
    • Our Policies

Support

Home›Front Page›Category: "Support"
  • Active Research & Studies

    Mental Health questionnaire study

    By mousem
    21st July 2020
    Dr Joanne Tarver, a Teaching Associate working with Dr Jane Waite at Aston University are inviting families to take part in a Mental Health ...
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  • PubMed
    Published KS Research & Studies

    PubMed – List of published KS research

    By mousem
    24th January 2020
    PubMed comprises more than 26 million citations for biomedical literature from MEDLINE, life science journals, and online books.  This is a regularly updated list ...
    Read More
  • Published KS Research & Studies

    Research update from Radboud UMC

    By mousem
    23rd April 2019
    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 ...
    Read More
  • Published KS Research & Studies

    Introducing new KS researcher

    By mousem
    6th January 2019
    At the UK conference in August 2018 Dr. Kleefstra indicated that due to being successful in a bid for funding her team would be ...
    Read More
  • GenIDA
    Support

    GenIDA Update (September 2017)

    By mousem
    13th September 2017
    The team behind the Ks Digital Registry, GenIDA are now curating the data which has been collected for the Kleefstra syndrome in collaboration with Tjitske ...
    Read More
  • Karlijn Vermeulen
    Published KS Research & Studies

    Adaptive and maladaptive functioning in Ks

    By mousem
    14th May 2017
    Karlijn Vermeulen (Pediatric psychiatrist and clinical researcher at Radboud UMC in Nijmegen) has had a new paper published called ‘Adaptive and maladaptive functioning in ...
    Read More
  • Dr. Miranda Coberman
    Published KS Research & StudiesResources

    Kleefstra syndrome and mental health

    By mousem
    8th January 2017
    As a parent of a child with Kleefstra syndrome, one of my greatest fears is the future, having read about the syndrome and the ...
    Read More
  • Marco Benevento article
    Published KS Research & Studies

    New paper published by Marco Benevento

    By mousem
    30th July 2016
    Marco Benevento (guest speaker at the 2013 conference) has had a new paper published called ‘Histone Methylation by the Kleefstra Syndrome Protein EHMT1 Mediates ...
    Read More
  • Dr. Tjitske Kleefstra & Karlijn Vermeulen
    Published KS Research & Studies

    Karlijn Vermeulen – new paper published

    By mousem
    30th 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
    Published KS Research & Studies

    GeneReviews update

    By mousem
    20th 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
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