J.Peter van Tintelen

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J.Peter van Tintelen

J.Peter van Tintelen

@jpvantintelen

clinical geneticist, department Genetics. professor of clinical genetics; klinisch geneticus, hoogleraar klinische genetica @umcugenetica

UMC Utrecht, the Netherlands Katılım Mart 2011
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Babken Asatryan, MD, PhD
Babken Asatryan, MD, PhD@BabkenAsatryan·
Honored to be selected as a 2026 American Society for Clinical Investigation (ASCI) Emerging-Gen (E-GEN) Awardee. Grateful to my mentors, collaborators, and patients who make our work meaningful. Looking forward to learning from the ASCI community.
ASCI@the_asci

The ASCI is proud to announce our 2026 Early-Career Awardees! The complete list of awardees: E-Gen: buff.ly/p9Y25zR YPSA: buff.ly/E81xVOZ Congratulations to our award recipients and the institutions they represent!

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LMNA cardiac
LMNA cardiac@LmnaCardiac·
🌍 International LMNA community: Sponsored walk for LMNA cardiac research. 📅 Reg opens Feb 9, 10:00 CET (very limited). 💙 Limited tickets (€120) + help with paid accommodation for international guests. 📩 Email us to get on the list. 🎥 youtu.be/9cb8qGDb7UM?si… #LMNAcardiac
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Sara Moscatelli
Sara Moscatelli@saramoscatelli7·
🚨 New genetics insight on bicuspid aortic valve (BAV)! A large multi-population GWAS from the Million Veteran Program has identified five novel loci for BAV — 🧬 PRDM6, TGFBI, LPA, ADAMTSL1, and ATXN2 — expanding our understanding of congenital valve biology and aortopathy risk. 🔍 The study also shows strong shared genetic architecture between BAV, thoracic aortic aneurysm/dissection, and aortic stenosis. 📊 Age-stratified analyses reveal that LPA plays a stronger role in stenotic progression rather than congenital valve morphology. 💡 These findings reinforce current recommendations for lifelong aortic surveillance and move us closer to genetically informed risk stratification. #BAV #Genetics #GWAS #Aortopathy #AorticStenosis #PrecisionMedicine #Cardiology #GenomicMedicine #ResearchUpdate #CongenitalHeartDisease #MVP #ValveDisease #ScienceNews #CardioGenomics ahajournals.org/doi/abs/10.116…
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SADS Foundation
SADS Foundation@SADSFoundation·
💙 Most people have never heard of Arrhythmogenic Cardiomyopathy (ACM), also known as Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)—help us change that. Visit sads.org/get-involved/a… to learn more.
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CRY
CRY@CRY_UK·
CRY has developed a series of booklets that contain personal stories from bereaved mums, dads, siblings, partners and friends. The series focuses on the grief specific to the relationship an individual has with the deceased. Read online here: c-r-y.org.uk/support-resour…
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J.Peter van Tintelen
J.Peter van Tintelen@jpvantintelen·
Nieuwe blog van Cora Aalfs @UMCUgenetica in Medisch contact: medischcontact.nl/opinie/blogs... Sofie (33) heeft Noonan syndroom. De medische feiten kende ze al vroeg, maar pas jaren later ontdekte ze hoe belangrijk het is om óók over emoties en vermoeidheid te praten.
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