Genetics in Medicine Open
gimopenjournal.bsky.social
Genetics in Medicine Open, an official journal of @theacmg.bsky.social and companion journal of @GIMJournal.bsky.social Site use policy: bit.ly/gimconduct.
👤 Joined on 31 December 2024
124
Followers
64
Following
110
Total Posts
📜 Kullanıcı Geçmişi
- 31 Ara 2024, 14:29
🎉 Bluesky'e katıldı - İlk kullanıcı adı:
@gimopenjournal.bsky.social
🚫 Blokladığı Kullanıcılar
❤️ Beğendiği Gönderiler
Have you read the full April issue of Genetics in Medicine yet? Explore it here: bit.ly/43Sah97 #genetics #genomics
Show PostDe novo RYBP variants cause a novel syndrome with developmental delays, feeding difficulties & congenital anomalies. Bonus: a possible unique methylation signature! bit.ly/43T40K9
Show PostImplementing the #ACMG/AMP guidelines is no simple task. Study offers a #pathogenicity assessment of genetic #variants found in patients with severe #hypertriglyceridemia, shedding light on the diagnosis of #familialchylomicronemiasyndrome bit.ly/3DKXbjk
Show PostLooking for updates on #NoonanSyndrome? A study of 172 individuals with NS reveals improved developmental outcomes, phenotypic spectrum insights, and high healthcare utilization bit.ly/3Fpyp91 #RASopathies
Show PostReady to switch? Transitioning from alglucosidase alfa to avalglucosidase alfa improves biomarker levels and motor function in infantile-onset #PompeDisease bit.ly/41Zyjxs
Show Post