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Thank you
@RareDiseases for supporting the#CDKL5 community in the application effort. Our medical and advocacy partners were essential to assuring the process was a success! https://twitter.com/RareDiseases/status/1225166460424769536 … -
Great news for our partners
@CDKL5USA! A unique ICD-10 code is an important step toward improved recognition, ascertainment & research for the#CDKL5 community. More: https://bit.ly/2OoCOLU -
Ready for Valentine’s Day! We have some heart shaped hangables and necklaces in our inventory ready to sell for
#CDKL5 Research!
#AllMoneyToResearch#RareResearchMatters#CureCDKL5pic.twitter.com/XYN7II3ygz
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The unique
#CDKL5 deficiency disorder diagnostic code will be incorporated in the October 1, 2020 classification revision. https://www.neurologylive.com/clinical-focus/cdkl5-deficiency-disorder-added-to-who-international-classification-of-diseases … -
Boston Children’s Hospital recommends yearly electrocardiograms for CDKL5 patients because of possible risk for cardiac arrhythmias in early life epilepsy syndromes.
#hearthealth#cdkl5#hope4harpercdkl5#love4lily… https://www.instagram.com/p/B8M1r4anX_Q/?igshid=kc93u2tpqpog … -
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Work from
#Rett,#FOXG1, and#CDKL5 NHS highlighted@GlobalGenes#datadiy.pic.twitter.com/mnEbsCRQik
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Not being able to talk is not the same as having nothing to say
#CDKL5#curecdkl5@cdkl5uk#shehasavoice@Ambywoowoo#proudmum pic.twitter.com/p5aXTzh6NpOvo je potencijalno osjetljiv multimedijski sadržaj. Saznajte više
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Daniel Glaze sets stage for positive outcomes generated by NHS study for
#Rett and atypical, rett-like disorders#CDKL5 Deficiency Disorder and#FOXG1.#DataDIYpic.twitter.com/Oubi9UXbBY
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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.
@SonyasStory#RareDisease#CDKL5 -
Looking forward to
#DataDIY presentation "Creating a Learning Collaborative" with our partners@Rettsyndrome and#CDKL5@TexasChildrens COE director, Bernhard Suter. Take homes: -learn from other orgs and research groups -ID similarities between disorders and build quickly -
Das nächste Familientreffen findet in
#Travemünde, Theodor schwarz Haus, am 28-30.August 2020 statt. Wir freuen uns auf den Austausch, neue Informationen zu#cdkl5 uvm. -
A brief summary of some of the research published in 2019 into
#CDKL5 ... http://www.supporting-cdkl5.co.uk/resources/CDKL5%20Research%202019.pdf … -
Інформація про "Різдвяні дебати" на сайті Міжнародного дня рідкісних захворювань.
#RareDiseaseDay#орфаннийдзвін#PHUkraine#cfsisterdalila#pulmonaryhypertension#рідкіснізахворювання#cdkl5 https://www.rarediseaseday.org/event/ukraine/160?fbclid=IwAR3afJRSmKq05Mu25FWUxnjwKDw0T-Jagd5hm01BAWRshkUksKn6vOFRwh0#.Xi8GB9p2yy0.facebook … -
Such an exciting development for the
#CDKL5 community. A hard fought win by many incredible advocates. And a big win for all the#Rares. We'll follow your lead. Congrats!https://twitter.com/CDKL5USA/status/1222184840990035968 … -
Super good news for
#CDKL5 deficiency disorder, we got a new ICD-10 diagnostic code that will start in October. If your#RareDisease does not have an ICD-10 code and you want to apply for one see how we did it: http://www.draccon.com/dracaena-report/icd10 …pic.twitter.com/w4MOd2hxuD
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Congratulations
@julianhalmai &@FinkLab! After lots of hard work and dedication, the publication is here!! Read about Artificial escape from#XCI by DNA methylation editing of the#CDKL5 gene! Oh and did I mention it’s#OpenAccess!#CRISPR#epigeneticshttps://academic.oup.com/nar/advance-article/doi/10.1093/nar/gkz1214/5700548 … – mjesto: UC Davis Institute for Regenerative Cures -
Congratulations
@julianhalmai on the publication of “Artificial escape from XCI by DNA methylation editing of the CDKL5 gene” in Nucleic Acids Research!
#epigeneticediting#CDKL5#dCas9#Tet1#XChromosomeInactivation https://academic.oup.com/nar/advance-article/doi/10.1093/nar/gkz1214/5700548 …Prikaži ovu nit -
Most common epilepsy causing genes:
#SCN1A
#KCNQ2
#CDKL5
#SCN2A
#STXBP1
#PCDH19 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!
https://www.ejpn-journal.com/article/S1090-3798(19)30428-3/fulltext …pic.twitter.com/Jx7pLqyF4s
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