Kleefstra syndrome

Main Menu

  • 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

logo

Header Banner

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

Published KS Research & Studies

Home›Front Page›Support›Category: "Published KS Research & Studies"
  • PubMed
    Published KS Research & Studies
    By mousem
    24th January 2020
    0
    0

    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 ...
    Read More
  • Published KS Research & Studies
    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
  • Published KS Research & Studies
    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
  • Karlijn Vermeulen
    Published KS Research & Studies
    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
    Published KS Research & StudiesResources
    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
    Published KS Research & Studies
    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
  • Dr. Tjitske Kleefstra & Karlijn Vermeulen
    Published KS Research & Studies
    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
    Published KS Research & Studies
    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
  • BioMed Central
    Published KS Research & Studies
    By mousem
    24th October 2014
    620
    0

    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. ...
    Read More
  • Monique Balemans
    Published KS Research & Studies
    By mousem
    20th August 2013
    720
    0

    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 ...
    Read More
1 2

Latest Tweets

Tweets by Kleefstrasyndro

HONcode

This website is certified by Health On the Net Foundation. Click to verify. This site complies with the HONcode standard for trustworthy health information:
verify here.

Follow Us

Facebook
Twitter

Translate

DutchEnglishFrenchGermanGreekItalianNorwegianPolishPortugueseSpanishTurkish
© Kleefstrasyndrome.org 2020