Rezultati pretraživanja
  1. Thank you for supporting the community in the application effort. Our medical and advocacy partners were essential to assuring the process was a success!

  2. prije 8 sati

    Great news for our partners ! A unique ICD-10 code is an important step toward improved recognition, ascertainment & research for the community. More:

  3. Ready for Valentine’s Day! We have some heart shaped hangables and necklaces in our inventory ready to sell for Research! 💜

    Prikaži ovu nit
  4. prije 8 sati

    The unique deficiency disorder diagnostic code will be incorporated in the October 1, 2020 classification revision.

  5. prije 8 sati

    Boston Children’s Hospital recommends yearly electrocardiograms for CDKL5 patients because of possible risk for cardiac arrhythmias in early life epilepsy syndromes.

  6. Odgovor korisnicima

    Just finished watching, thanks so much! I’d love to be able to connect with other families in my state. There is only 1 other family that I know of.

  7. 4. velj
  8. 4. velj

    Not being able to talk is not the same as having nothing to say

    Ovo je potencijalno osjetljiv multimedijski sadržaj. Saznajte više
  9. 4. velj

    Daniel Glaze sets stage for positive outcomes generated by NHS study for and atypical, rett-like disorders Deficiency Disorder and .

  10. 4. velj

    Sam and Randi-please know we are praying for you during this difficult time. Sonya is flying high with the angels. May God bring you peace and comfort.

  11. 4. velj

    Looking forward to presentation "Creating a Learning Collaborative" with our partners and COE director, Bernhard Suter. Take homes: -learn from other orgs and research groups -ID similarities between disorders and build quickly

  12. 3. velj

    Das nächste Familientreffen findet in , Theodor schwarz Haus, am 28-30.August 2020 statt. Wir freuen uns auf den Austausch, neue Informationen zu uvm.

  13. 31. sij

    A brief summary of some of the research published in 2019 into ...

  14. 30. sij
  15. 29. sij

    Such an exciting development for the community. A hard fought win by many incredible advocates. And a big win for all the . We'll follow your lead. Congrats!

  16. 27. sij

    Super good news for deficiency disorder, we got a new ICD-10 diagnostic code that will start in October. If your does not have an ICD-10 code and you want to apply for one see how we did it:

  17. 13. sij

    Congratulations & ! After lots of hard work and dedication, the publication is here!! Read about Artificial escape from by DNA methylation editing of the gene! Oh and did I mention it’s ! – mjesto: UC Davis Institute for Regenerative Cures

  18. 11. sij

    Congratulations on the publication of “Artificial escape from XCI by DNA methylation editing of the CDKL5 gene” in Nucleic Acids Research! 🎉

    Prikaži ovu nit
  19. 6. sij

    Most common epilepsy causing genes: 1⃣ 2⃣ 3⃣ 4⃣ 5⃣ 6⃣ Together, these 6 genes account for 50% of the diagnosis using gene panels. 🚨5 of those genes have active clinical trials! we NEED more genetic testing!

Čini se da učitavanje traje već neko vrijeme.

Twitter je možda preopterećen ili ima kratkotrajnih poteškoća u radu. Pokušajte ponovno ili potražite dodatne informacije u odjeljku Status Twittera.