& seeing as you mentioned VUS's @22Q11_Ireland, here's another plug...

Slán go fóill. Táim ag dul go dtí an áit a bhfuil an spéir gorm Adieu

RT @Unique_charity: The Autism and Rare Neurodevelopmental Disorders Research Group at Trinity College Dublin are recruiting people carryin…

RT @ERNIthaca: 📢 New ERN-ITHACA Webinar on Rho-GTPase in intellectual disability and NDDs next Tuesday at 5 PM! Pass the word! Here to see…

RT @Boenau: About that empty bus lane...

RT @irdirc: 🚨 Call for experts: IRDiRC seeks experts to support 5 new activities in rare diseases research : 🔹Preventive Medicines 🔹Regulat…

RT @BritSocGenMed: Ahead of the second reading of the Bill proposed by @RicHolden to prohibit cousin marriages, we have released a parliam…

@ERNIthaca webinar coming up👇

RT @irdirc: 📢 A new IRDiRC manuscript, "Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe",…

IRDiRC newsletter I'm taking over chair of diagnostic scientific committee from David Adams, big shoes...Thanks David for your work to date

RT @mackeithpress: How can medical professionals and people with lived experience of #disability best work together to co-create an inclusi…

@UCDMedicine @UCD_Research @ucddublin Oops I should thank @irdirc for facilitating clinicians (me) to suggest rare disease topics that needed to be published

RT @Unique_charity: We’re excited to share ‘What Can We Say About Microarray?’, written by Genetic Counsellor Alice Marshall. Explaining mi…

An bhfuil róbónna ag obair as gaelige ar twitter?

RT @mackeithpress: Craniosynostosis is a condition where the bones of an infant’s skull fuse together too early. Discover the @GilletteChi…

@UCDMedicine & thanks to @AdelaideHealthF for funding the work. Drilling into lab data takes time & whilst we anecdotally had concerns, employing someone to pull the data & analyse it was key

RT @mackeithpress: A case series illustrates the utility of #wholegenomesequencing in identifying copy number variants missed by convention…

Just out. Collaborators thanks to @irdirc & @ERNIthaca. Early diagnosis improves prognosis. Kudos to super Registrars Shauna & Nicola. Catalogue of inherited autosomal recessive disorders found amongst the Roma population of Europe.

RT @KMGorman_Neuro: Closing date 5th of January 2025 for any interested pediatric neurologists 🧠🧬💉