Parent-driven research on individuals with #Chromosome6 disorders (deletion and duplication) #ProfessorConny @UMCG #Awareness #worldwide 🌏 #crowdfunding
Joined January 2014
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Chromosome 6 Project🧬 retweeted
Excited to attend #eshg2024 in Berlin and represent the @c6study! Check out our poster on the kind of health information on #chromosome disorders that parents and professionals want to access online.
I will be available for Q&A during session B on 02/06 at 15:45.
@Hope4chromo6
Chromosome 6 Project🧬 retweeted
Delighted to share my participation to this year’s #EuroNDD in Lisbon!
Join me during the Poster Tour to discuss our #research on developing a novel phenotype description tool for #chromosome deletions, as part of the @c6study (ID #26, Diagnostics theme).
Chromosome 6 Project🧬 retweeted
So that in the future parents will have answers to their questions.
The project works as much as possible with volunteers, but money is needed to achieve this goal. And every contribution, however small, is very welcome.
Chromosome 6 Project🧬 retweeted
Today 1-2 p.m. at #eshg2023 @EleanaRraku will present her poster P12.003.C - Del2Phen: a novel patient centric genotype to phenotype prediction tool for chromosome deletions the Chromosome 6 Project. @c6study
One of two posters on Chromosome 6. Also available in hybrid form.
Chromosome 6 Project🧬 retweeted
Later today in PVO2 - @AafkeEngwerda presents P12.026.B Parents as partners: data consistency and data availability of parent-reported phenotypes. #eshg2023 @c6study
One of two posters on the Chromosome 6 project.
Chromosome 6 Project🧬 retweeted
Last week our paper got published as a comment in #EJHG The role of #TBX18 in congenital heart defects in humans not confirmed doi.org/10.1038/s41431-022-0…
@c6study #Chromosome6 @CRavenswaaij @UMCGgenetica
Chromosome 6 Project🧬 retweeted
Het #Chromosome6 Project doet vandaag mee met het #weekendvandewetenschap! Jullie kunnen ons vinden op de 5e verdieping van het #Forum in Groningen. Kom langs en doe mee aan een interactief toneelstuk over #onderzoek !
@UMCGgenetica @umcg @AafkeEngwerda @EleanaRraku
Chromosome 6 Project🧬 retweeted
#JointMeeting2022 - submitted abstracts
@EleanaRraku - Terminal 6 Deletions (inc FOXC1)
- survey of 13 new & 46 literature cases
- working with @c6study
👁️Ant segment dysgenesis
🫀 CHD (echo)
🧠 inc aCC (MRI)
@UMCGgenetica @erfelijk_artsen @clingensoc @UKCGG @BritSocGenMed
Chromosome 6 Project🧬 retweeted
The #Chromosome6 Project contributed to the delineation of the EPHA7 deletion related phenotype #RareDisease @c6study @CRavenswaaij @UMCGgenetica
Chromosome 6 Project🧬 retweeted
Our general guide to deletions & microdeletions is useful to pass on to friends & family and anyone involved in yours or your childs' care.
Read & download for free at rarechromo.org/disorder-guid…
Chromosome 6 Project🧬 retweeted
#COVID19 update for patients with rare genetic disorders incl. developmental disorders, undiagnosed developmental delay, rare single-gene & chromosome disorders is now available on Unique website at rarechromo.org/covid19update
With thanks to @BritSocGenMed @clingensoc @RCPLondon
Chromosome 6 Project🧬 retweeted
Our #professorConny returned home after her 1200 km. walkforchromosome6.blogspot.… We’re very grateful for what she and her researchers do for us parents with a #chromosome6 child.
@c6study @UMCGgenetica @researchumcg @umcg @rtvnoord @Erfelijk_artsen
Chromosome 6 Project🧬 retweeted
Beste #ProfessorConny,
Wat een geweldige prestatie! Wij als #C6familie zijn je heel #dankbaar dat je dit allemaal doet voor Roeland en zijn #Chromosome6 maatjes! Chapeau!🥰
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Chromosome 6 Project🧬 retweeted
Wat een fantastische presentatie @CRavenswaaij en wat geweldig dat je op deze manier aandacht hebt gevraagd en geld hebt ingezameld voor @c6study! 👏👏👏
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Chromosome 6 Project🧬 retweeted
Today #ProfessorConny has left The Netherlands to continue her walk for #Chromosome6
Donate for Chromosome 6 via:
justgiving.com/campaign/walk…
Or
geef.nl/nl/actie/1200-kilome…
Follow Professor Conny's journey via:⬇️ walkforchromosome6.blogspot.…
#walk4chromosome6
#SantagodeCompostela
@c6study
Chromosome 6 Project🧬 retweeted
Zondag vliegt professor Conny naar Spanje voor de laatste 410 kilometer van haar ‘Walk for Chromosome 6’ @c6study. ukrant.nl/professor-conny-ga…
Chromosome 6 Project🧬 retweeted
Our families and the new diagnosed families are very grateful. ❤️
Good luck#ProfessorConny
with your walk4chromosome6 to
#SantiagodeCompostela
Follow her adventures via her blog:⬇️🥾🥾
walkforchromosome6.blogspot.…
#Chromosome6
#ProfessorConny
@c6study
#Hope4chromosome6
@c6study