Worldwide exchange of information & awareness for children with #BohringOpitz Syndrome/#ASXL1 - We have stopped posting new tweets.
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Joined April 2015
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We have decided not use on the social medium platform ‘X’, formerly ‘Twitter’ anymore. See why bohring-opitz.org/2025/01/19…
view.genially.com/659fe17bb5… Your Interactive Visual Aid (IVA) on the most common symptoms of Bohring-Opitz Syndrome (BOS), caused by de novo mutation in ASXL1 gene.
ALT Your Interactive Visual Aid (IVA) on the most common symptoms of Bohring-Opitz Syndrome (BOS)
BOS Puberty Study
Last recruitment call for the BOS EEG Study. We are looking for 5 more people! @https://bohring-opitz.org/2023/06/02/bos-puberty-study/
ASXL1 mutations that cause Bohring Opitz Syndrome (BOS) or acute myeloid leukemia share epigenomic and transcriptomic signatures biorxiv.org/content/10.1101/…
Thank you @RareDiseases for the opportunity to present the findings from our family survey at the #NORDSummit!
BohringOpitzSyndrome retweeted
Thank you @RareDiseases for the opportunity to present the findings from our family survey at the #NORDSummit!
Thank you and congratulations to our top five poster abstract submitters for their insightful presentations during the “Lightning Round Poster Presentations.” Check out their posters in the #NORDSummit exhibit hall!
COMING SOON: PUBERTY SURVEY FOR ALL ASXL FAMILIES!
The UCLA ASXL Registry team is currently working on a new survey regarding puberty in children with ASXL conditions. If you would like to participate, please enroll in in the Registry. More info bohring-opitz.org/2022/10/06…
BohringOpitzSyndrome retweeted
#Lugo 🔴 Daniela y la cruel lotería de la genética
Este miércoles está dedicado a visibilizar el síndrome de Bohring Opitz, una enfermedad ultrarara, que tienen solo cuatro pacientes en España. Uno de ellos una niña lucense, Daniela Varela bit.ly/37lkMX6
BohringOpitzSyndrome retweeted
DNA methylation signature associated with Bohring-Opitz syndrome: a new tool for functional classification of variants in ASXL genes.
Eur J Hum Genet 30, 695–702 (2022). doi.org/10.1038/s41431-022-0…
Bohring-Opitz Syndrome Awareness Day! Celebrate with us by wearing Denim and Gold on April 6th.
#BOS #BohringOpitz #Morethanasyndrome #BOSaware #BOSawareness #BOSfamily #ASXL1
Bohring-Opitz Syndrome Awareness Day! Celebrate with us by wearing Denim and Gold on April 6th.
#BOS #BohringOpitz #Morethanasyndrome #BOSaware #BOSawareness #BOSfamily #ASXL1
Bohring-Opitz Syndrome Awareness Day! Celebrate with us by wearing Denim and Gold on April 6th.
#BOS #BohringOpitz #Morethanasyndrome #BOSaware #BOSawareness #BOSfamily #ASXL1
Bohring-Opitz Syndrome Awareness Day! Celebrate with us by wearing Denim and Gold on April 6th.
#BOS #BohringOpitz #Morethanasyndrome #BOSaware #BOSawareness #BOSfamily #ASXL1
Bohring-Opitz Syndrome Awareness Day! Celebrate with us by wearing Denim and Gold on April 6th.
#BOS #BohringOpitz #Morethanasyndrome #BOSaware #BOSawareness #BOSfamily #ASXL1
BohringOpitzSyndrome retweeted
DNA methylation can help classify variants in Bohring-Opitz syndrome.
nature.com/articles/s41431-0…
BohringOpitzSyndrome retweeted
We stand in solidarity with people in Ukraine and wish to extend support to 🇺🇦 rare disease community.
We are calling on the international community to protect those caught in the conflict, with no access to humanitarian aid.
l.eurordis.org/StuD
📸 "Happy together", Ukraine
