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Sally Ann Lynch @sorchainenil.bsky.social · 1d

Brian's doing a lot,
4 shows on the trot,
He's looked at the map,
Touring Ireland via a clockwise lap,
He's missed out Cork city,
Now that's a great pity,
Galway's shunned too,
Nevermind, Gaillimh abú,
Next time start in Derry
Head west & end in Kerry?

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Sally Ann Lynch @sorchainenil.bsky.social · 2d

Too right! We take it for granted.

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Sally Ann Lynch @sorchainenil.bsky.social · 3d

Grim

Sally Ann Lynch @sorchainenil.bsky.social · 4d

It's not even that they don't understand, they have an attention span too short to listen to the science? Dismissal is quicker. Listening would tax the brain & not yield any dollars.

Sally Ann Lynch @sorchainenil.bsky.social · 5d

#CAOConference2025 in TCD this am

Sally Ann Lynch @sorchainenil.bsky.social · 5d

& just like that, the tree grew mushrooms overnight

Sally Ann Lynch @sorchainenil.bsky.social · 6d

Such a loss to the Irish language & culture. I loved his programmes.

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Sally Ann Lynch @sorchainenil.bsky.social · 7d

onlinelibrary.wiley.com/doi/10.1002/... great European collaboration & diagnosis achieved through presentation @eshg.bsky.social dysmorphology workshop

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

O-GlcNAc transferase (OGT) and its antagonist O-GlcNAcase (OGA) regulate protein O-GlcNAcylation, a highly conserved post-translational modification involved in metabolic sensing. Pathogenic variants....

onlinelibrary.wiley.com

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Sally Ann Lynch @sorchainenil.bsky.social · 8d

But the DNA much the same 🤔?

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Sally Ann Lynch @sorchainenil.bsky.social · 9d

ERN-ITHACA WEBINAR: GENETICS AND UNIQUE POPULATIONS: THE CASE OF THE FINNISH, ROMA & IRISH TRAVELLERS - ERN ITHACA share.google/OijWa9iC0eeO...
14th October webinar 🧪🧪🧪

ERN-ITHACA WEBINAR: GENETICS AND UNIQUE POPULATIONS: THE CASE OF THE FINNISH, ROMA & IRISH TRAVELLERS - ERN ITHACA

Europe is made up of many different populations both indigenous to Europe and those that migrated in over the centuries. Differing barriers in healthcare access means that rare and ultra rare disorder...

share.google

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Reposted by Sally Ann Lynch

Kevin Mitchell @wiringthebrain.bsky.social · 10d

It’s delusional to think Irish universities will thrive without extra funding m.independent.ie/opinion/paul...

Paul Farrell: It’s delusional to think universities will thrive without extra funding

“The value of an idea lies in the using of it,” said Thomas Edison, whose many credited inventions include the commercially viable light bulb. It remains as true today as it did a century ago.

m.independent.ie

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Reposted by Sally Ann Lynch

WHO @who.int · 13d

#Hypertension or high blood pressure can cause heart attacks & strokes!

Risks include:
⚠️Excessively salty food
⚠️Limited access to healthy food
⚠️Physical inactivity
⚠️Tobacco & alcohol use
⚠️Being overweight or living with obesity

Get checked today 👉 bit.ly/NCDsSilentKillers #SilentKillers #UNGA

A dining table with a salt shaker in focus. Text on the image reads: “Some killers don’t chase, they wait.” and “Hypertension is a silent killer.”

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Sally Ann Lynch @sorchainenil.bsky.social · 14d

www.cell.com/ajhg/abstrac...
🧪🧪 enormous effort, years in the making

Heterozygous pathogenic variants in the splicing factor SF1 lead to a large spectrum of neurodevelopmental disorders

Heterozygous de novo variants in the splicing factor SF1 cause a neurodevelopmental disorder with variable severity and autistic traits. Functional studies reveal that SF1 deficiency disrupts gene exp...

www.cell.com

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Sally Ann Lynch @sorchainenil.bsky.social · 15d

Worse, it's grossly negligent behaviour & is likely to result in harm. He'd be struck off any medical or nursing councils.

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Sally Ann Lynch @sorchainenil.bsky.social · 16d

onlinelibrary.wiley.com/doi/10.1111/...
Germline mosaicism in Blackfan Diamond

Germline mosaicism in a family affected by Diamond–Blackfan anaemia

Click on the article title to read more.

onlinelibrary.wiley.com

Sally Ann Lynch @sorchainenil.bsky.social · 18d

Maybe reduce coverage to two lines, don't include any photos & put on page 5 or 7? That would work for me?

Reposted by Sally Ann Lynch

RTÉ News @news.rte.ie · 20d

For a quarter of a century the village of Dunhill in Co Waterford has been using the magical power of wetlands to deal with its domestic wastewater, clean it up and safely release it back into the nearby River Anne

Wetlands providing natural treatment plant in Waterford

Mother nature has been working hard for the residents of Dunhill, a pleasant village of 400 people located beside the Anne Valley Walk in Co Waterford.

www.rte.ie

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Sally Ann Lynch @sorchainenil.bsky.social · 20d

End of day, time to climb the tower & chill. Vilnius eurodysmorphology

Sally Ann Lynch @sorchainenil.bsky.social · 20d

Yuxin Woon presenting her case series of chromosome 17q12 cases in Vilnius university eurodysmorphology

Reposted by Sally Ann Lynch

RTÉ News @news.rte.ie · 21d

Scientists estimated that rising temperatures from human-caused climate change were responsible for roughly 16,500 deaths in European cities this summer, using modelling to project the toll before official data is released

Study estimates 16,500 climate change deaths in EU summer

Scientists estimated that rising temperatures from human-caused climate change were responsible for roughly 16,500 deaths in European cities this summer, using modelling to project the toll before off...

www.rte.ie

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Sally Ann Lynch @sorchainenil.bsky.social · 21d

Eurodysmorphology Vilnius university superb setting

Sally Ann Lynch @sorchainenil.bsky.social · 21d

Vilnius has a lovely artsy vibe. Looking forward to ERN ITHACA Eurodysmorphology meeting..

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Sally Ann Lynch @sorchainenil.bsky.social · 22d

Portal from Vilnius to Dublin! Who knew?

Sally Ann Lynch @sorchainenil.bsky.social · 25d

Great to see. This section is a busy cycle route but this part was horrible to cycle. @irishtimes.com this isn't about anti-car, it's about realising humans who walk or cycle have a right to safe space to travel too?

Sally Ann Lynch @sorchainenil.bsky.social · 26d

Great story

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