Top Tweets for #simd2023
今年3月にユタ州ソルトレイクシティで開催されたSIMD学会で展示ブースのスポンサーを務めました。財団は、ネットワーク作りと米国での活動拡大に注力し、米国在住の患者会員様とも直接お会いすることができました。
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#シトリン欠損症
#シトリン財団
#先天代謝異常
#citrindeficiency
#simd2023
If #SIMD2023 and #ACMGMtg23 have left you with an insatiable appetite for the intricacies of #IMD then you've got to have it all, and it's all in the International classification of inherited metabolic disorders (ICIMD)
Ferreira, et al
https://t.co/m63Cy7qsOL
We are grateful for the opportunity to present at the #SIMD2023 meeting and engage with industry colleagues working to bring hope to patients of #metabolicdisorders.
https://t.co/qQ6J1HVWBn
$CYTH #NiemannPick #NPC1
Coming down from #SIMD2023 and #ACMGMtg23 and feeling a bit bamboozled by the variety of IMD? Then keep it simple.
Proposal for a simplified classification of IMD based on a pathophysiological approach: A practical guide for clinicians
Saudubray, et al
https://t.co/V8TG4JGroW
Find someone who looks at you how I look at @bryce_schuler when he is talking about bioinformatics and genomic testing 😂 @MommasaurusJess @TheACMG #ACMGMtg23 #SIMD2023
We are so proud of our medical genetics trainees who presented posters at #ACMGMtg23 and #SIMD2023 #ACMG2023 @TheACMG
The results of my yarnwork during #ACMGMtg23 and #SIMD2023! This is my first experience with crocheting cables, and I modified the pattern using a smaller hook and making the neck longer to fit my longerino. Love how it looks and fits so far! 🐩🧶🧬 #Yarnsorkersofgenetics
I really enjoyed the #SIMD2023 meeting! It was my first time attending, and I learned a ton and met some great people.
Leaving #SIMD2023 and already missing it? Dive into the JIMD Podcast back catalogue to keep the IMD party going. @SIMDtweets
Soundcloud: https://t.co/U7HscsYHRC
Apple: https://t.co/rsIfGgmpRv
Spotify: https://t.co/DdPrzmlrKn
#genechat #ACMGMtg2023 #IMD #raredisease
Accelerating #awareness & #advocacy for all types of #homocystinuria @ #SIMD2023!
Pictured: Danaé & Brittany w/our AMAZING medical advisors & board members Dr. Peter Baker and Dr. Kimberly Chapman & the founders of Petri Bio!
#Homocystinuria #CobalaminDisorders #HopeConnectsUS
Leaving #SIMD2023 and already missing it? Dive into the JIMD Podcast back catalogue to keep the IMD party going. @SIMDtweets
Soundcloud: https://t.co/U7HscsYHRC
Apple: https://t.co/rsIfGgmpRv
Spotify: https://t.co/DdPrzmlrKn
#genechat #ACMGMtg2023 #IMD #raredisease
También se habla español. Latinoamérica presente en #SIMD2023
Presenting our projects in Alkaptonuria #SIMD2023
Dr Aimèe Dudley: using yeast for func’nl assays in rare AR dz, example: serine pathway (eg, Neu-Laxova, early Rx w Ser helps!) Model in yeast (has PSAT1 ortholog.) Do all sn variants, can see how they grow. Map variants, can interpret VUS! And diploids=✅AR impacts! #SIMD2023
I'm launching the first post in a 3-part series titled "Metabolic Masquerading." These posts will cover treatable metabolic d/o that mimic more common conditions (e.g. recurrent abdominal pain, cerebral palsy). Sign up via 📧 to follow along!
#GeneChat #MedTwitter #SIMD2023
StudyRare Newsletter: 2023.03.21 | Questions 39-40 https://t.co/inRCWgZLGs
Had a wonderful time at #SIMD2023 in Salt Lake City! Thank you to everyone for their guidance and advice as I hit the residency application trail this fall! @SIMDtweets
Ronin in mouse retina. Regulator of mito fcn, including genes in Cbl path. Note CblC and their retinal abn! Also CblX. Reduced bone development in ronin, due to low CblC gene? Increase didn’t🙁fix, so other 🎯? Cbl X as ribosomopathy? (What kind??) #SIMD2023
Had a great time at #ACMGMtg23 and #SIMD2023. Grateful for the opportunity to share our research and learn from brilliant colleagues. Favorite part was catching up with SLC friends and getting to meet the little munchkins, Nolan and Naomi. 🥰 👶 🌈 Until next time, SLC 👋
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