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1000 persone a Rimini per la XXII Convention Scientifica di Fondazione Telethon. Più di 500 ricercatori finanziati si confrontano sulle malattie genetiche rare per collaborazioni e fare passi avanti nella ricerca Grazie a @RegioneER @turismoER #ConventionFondazioneTelethon
Ci siamo! 🏃♀️Torna a Napoli la Walk Of Life 👟🧬🔬L'iniziativa di Fondazione Telethon a sostegno della ricerca scientifica sulle malattie genetiche rare è per domenica 23 a Napoli. Sabato 22, presso la Rotonda Diaz, il Villaggio con varie attività. 👉fondazionetelethon.it/storie-e-news/…
📢 One week until #RareDiseaseDay! On 28 February, we stand with the 300 million people living with a rare disease to raise awareness, promote policy change, and advance research. 🌍💙 🗓️ Stay tuned for more updates as we mark this important day! #RareDiseases
IMPERDIBILE PER I BIOLOGI IN FORMAZIONE! Fino al 15 giugno si può chiedere la borsa di studio all'@eshgsociety Basics in Human Genetic Diagnostics 8th-12th September 2025 Figueria de foz, Portugal Scarica il volantino: anpgm.fr/media/document…
Rare disease patients often face years without answers. Thanks to @Solve_RD, 500+ new diagnoses were made by reanalysing data for 6,447 patients. 🚀 Now, ERDERA aims to analyse 100,000 cases with advanced tech! 📖 Read the article: loom.ly/E--1T4s
E' ancora aperto il bando della Scuola di Specializzazione in Genetica Medica (scadenza 13/12/2024. Il bando è consultabile al link: unicampania.it/index.php/dida…
Sei un #biologo ? Non perdere l'occasione di entrare alla specializzazione in #genetica medica! Ci sono bandi aperti! sigu.net/categoria-annu…
sigu.net
Bandi scuole di specializzazione Archivi - Sigu
Bandi scuole di specializzazione Archivi - Sigu
La neurofibromatosi di Tipo 1 in eta’ pediatrica Claudia SANTORO, Giulio PILUSO minervamedica.it/en/books/medic… #edizioni_minerva_medica #medicina #medicine #pediatria #neurofibromatosi
A game-changing partnership! ERDERA unites 178 organizations from 37 countries to lead rare disease research🚀 Learn more🌐 erdera.org #ERDERA #EU #HealthInnovation
Università degli Studi della Campania Luigi Vanvitelli Bando di concorso per l’ammissione alla Scuola di Specializzazione in Genetica Medica (non medici) a.a.2022/2023 Termine di scadenza presentazione domande di partecipazione: 13 dicembre 2024 unicampania.it/index.php/dida…
Today marks the official launch of @ERDERA_org a flagship partnership set to make Europe a world leader in rare diseases research and innovation: Learn more loom.ly/HBCgxQo
🆕@Solve_RD publication by German Demidov @SteveLaurie42 & al. published @SpringerNature @Nature_NPJ Genomic Medicine: 📢Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 🔗 doi.org/10.1038/s41525…
🚀 Join us for the ERDERA launch event! 🗓️ 28 Oct 2024 ⏰ 14:00-16:15 CET 💻 Online Don't miss insights from top experts & learn how @ERDERA_org is set to change the landscape of rare diseases research! 👉 RSVP here:loom.ly/roZC5QM #RareDiseases @EU_HaDEA
🚨 Call for Nominations: ERDERA Multistakeholder Advisory Group 🚨 Seeking experts in research, healthcare, digital health, policy, and more to join ERDERA's mission to advance rare disease research across Europe! 🔗 Find more info & apply by Oct 31st: [loom.ly/-fvnkKs]
![ERDERA_org's tweet image. 🚨 Call for Nominations: ERDERA Multistakeholder Advisory Group 🚨
Seeking experts in research, healthcare, digital health, policy, and more to join ERDERA's mission to advance rare disease research across Europe!
🔗 Find more info & apply by Oct 31st: [loom.ly/-fvnkKs]](https://pbs.twimg.com/media/GZSaSOxWsAA51Qo.png)
New #EditorsChoice: When researchers expressed tagged LZTR1 variants in cells from affected individuals, levels of LZTR1 were much lower than wild-type, while the one variant that produced typical amounts of protein did not localize appropriately bit.ly/3sW2eId
Just café-au-lait macules? Mastromoro et al. report heterozygous loss-of-function LZTR1 variants in individuals with isolated multiple CALMs bit.ly/4dmWOHe
Just café-au-lait macules? Mastromoro et al. report heterozygous loss-of-function LZTR1 variants in individuals with isolated multiple CALMs bit.ly/4dmWOHe
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules - Genetics in Medicine gimjournal.org/article/S1098-…
📢 🔬 La tecnologia in aiuto delle diagnosi più difficili 🎙 Intervista a @VincenzoNigro , ricercatore @Tigem_Telethon , coordinatore del programma Telethon per le malattie senza diagnosi: le novità del prossimo triennio. 👉 telethon.it/storie-e-news/…
🆕@Solve_RD publication by German Demidov @not_a_reptiloid & others: "Structural variant calling & clinical interpretation in 6224 unsolved #RareDisease exomes" published @ejhg_journal. 🔗 rdcu.be/dJ6cU @SteveLaurie42 @MorleoManuela @Holmson69 @smbanka @stosto1977
A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome mdpi.com/2613854 #mdpigenes via @Genes_MDPI
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