great to see #SkeletalDysplasia project which started Jan 2021 now online & pleased how figs came out onlinelibrary.wiley.com/doi/epdf/10.11…
Will & Zoey have medical complexity with #achondroplasia #orthopedic #respiratory #skeletaldysplasia #WellnessWed
#iccbh2017 kicks off with emphasis on adopting #multidisciplinaryteam approach in #skeletaldysplasia like #osteogenesisimperfecta
Happy to announce the next International Skeletal Dysplasia Society meeting, Madrid 18-21 Sept 2024 (isdsmadrid2024.com #ISDS 2024 ). We look forward to seeing you. #ISDS European Reference Network on Rare Bone Diseases MCDS-Therapy #skeletaldysplasia
Proud to announce our latest publication: Best practice guidelines in managing the craniofacial aspects of skeletal dysplasia
Available open access!
ojrd.biomedcentral.com/track/pdf/10.1…
#skeletaldysplasia #medtwitter #RareDisease
open.spotify.com/episode/7mm9jp… How excited am I to be headlining the #ThePaedipodsCast #TheCoronaCast by @Paedipods podcast this week! Thanks Pranai Buddhdev for the chat about #skeletaldysplasia , #RareDiseaseDay and the Human DNA Haynes Manuals - Understanding your genetic code alturl.com/ynfzt It was a blast!
I joined Carvalho Lab Claudia M Carvalho starting 2023. Our new website: pnri.org/carvalho-lab/
We are a rare disease research lab at Pacific Northwest Research Institute
#raredisease #skeletaldysplasia #research #structuralvariance #Genetics
Honoured to have been awarded the #Founders Prize at the #SkeletalDysplasia Group Meeting for my presentation on the prevention of #Madelungs Deformity in Leri-Weill Dyschondrosteosis! #research #innovation #dysplasias #surgery #paedipods #functionandflourish
It’s a beautiful morning in #UCD . Just over two weeks left until the abstract submission deadline for #ICCBH10 . Come and join us in Dublin, live and in person for what promises to be an exciting scientific conference on #childrensbones #calcium #skeletaldysplasia #bonehealth
Julie Hoover-Fong giving an excellent talk to the #PediatricEndocrinologists on the Lifetime burden of #achondroplasia at the #ESPE2023 meeting.ALPE Acondroplasia #skeletaldysplasia
Don't wait on miracles! Go out and make them happen!! #skeletaldysplasia #patientleaders #NewTreatments #jansensdisease
RoySocMed meeting on #ciliopathy & #skeletaldysplasia . Special rates for RSM fellows and #SDG members. Mon 6th Nov. rsm.ac.uk/events/mgk01
Proud to announce the publication of our 5th manuscript! 'Best practice guidelines for management of spinal disorders in skeletal dysplasia'. Available for free OrphanetJournal at BMC rdcu.be/b494M
Find out more at skeletaldysplasia.org #skeletaldysplasia
Become a member of SMFM to register for Dr. Deborah Krakow's lecture on #skeletaldysplasia David Geffen School of Medicine at UCLA UCLA Health education.smfm.org
Constitutively active Thermosensitive #TRPV4 channels in #Osteoblasts lead to #SkeletalDysplasia . Mitochondrial TRPV4 activation leads to calcium overload, increase in mitochondrial temperature, fragmentation and disruption in ATP production. Full text: authors.elsevier.com/c/1fzQ-_ZfLmjK…
📣 For #RareDisease Day2021 I’m proud to announce Mid and South Essex NHS Foundation Trust 🏥 will be setting up a specialist #Essex 🦴 🧬 #SkeletalDysplasia 🧑🏾⚕️👨🏻⚕️👩🏼⚕️ #RareDisease MDT clinic to serve all of our special patients & families:providing excellent care locally to help children function & flourish!
.......and how EU funding has transformed #skeletalgenetics #skeletaldysplasia #raredisease translational research SYBIL_news
Boston found Shriners Hospitals for Children because his sister had such a good experience years before. We have loved watching both of them grow up. ❤️
#ShrinersHospSLC #Skeletaldysplasia
