Lab. Genetica Medica @Lab_GenMed
geneticamedica.unicampania.it Naples, Campania Joined November 2014-
Tweets64
-
Followers31
-
Following37
-
Likes8
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…
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]
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
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 https://t.co/WoPR3ij7Zz
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
angel jose pereira @angelpereira450
952 Followers 7K Following
Michele Pinelli @alt_gen_
178 Followers 557 Following Rare Disease and Clinical Genomics @ University of Naples, Italy
AFIFF_Italia @afiffitalia
421 Followers 510 Following AFIFF informa. News dall'Associazione Familiari Insonnia Familiare Fatale - Malattie da Prioni
Qumal @QuoosmevY1o
7 Followers 569 Following
Società Italiana Gen... @SIGU_97
156 Followers 16 Following SIGU si propone come struttura di riferimento per problemi di interesse scientifico e sanitario circa la Genetica Umana in tutti i suoi aspetti.
Épsilon @psilon69549410
0 Followers 39 Following
Maria Gloria @dedonatis_mg
8 Followers 174 Following
MGZ - Medizinisch Gen... @MGZMuenchen
36 Followers 64 Following Das MGZ steht als Praxis für Humangenetik mit über 20 Jahren Erfahrung für hochqualifizierte Patientenversorgung und modernste humangenetische Labordiagnostik.
OmnisCellulaEcellula ... @xOmnisCellulax
25 Followers 160 Following
Linfa Neurofibromatos... @Ass_linfa
226 Followers 563 Following LINFA vuole trovare una cura per le neurofibromatosi (NF), migliorare la qualità di vita dei pazienti, promuovere la conoscenza di questa sindrome genetica rara
Cosimo Abagnale @xCosimoDD
6 Followers 69 Following Università degli Studi di Napoli Federico II - Dipartimento di Medicina Molecolare e Biotecnologie Mediche - Student 📚🎓 Traveler 🌎 Lover Rock 🖤🎸
Angelo Pilotti @AngeloPilotti
471 Followers 1K Following 2⃣5️⃣ y.o., 🧬PhD student in Immunology (integrated stress response in autoimmunity), 100% Italian
Manuela Morleo @MorleoManuela
163 Followers 251 Following Research Associate, Telethon Institute of Genetics and Medicine, @tigem_telethon, [email protected] #rarediseases #molecularmechanisms #undiagnosed #malattierare
Angelo Faini @FainiAngelo
15 Followers 126 Following Medical Doctor University of Turin, MD/PhD Program. Researching in Immunogenetics/myeloma. Previously visiting researcher at Harvard University-DFCI. Pianist.
Fernando Gianfrancesc... @F_Gianfrancesco
234 Followers 489 Following Researcher at National Researcher Council of Italy (CNR): biology of bone diseases; tumors and genome instability | Marathon addicted: 43 completed🏃🏼🏃🏿🏃♂️
Dhivya.A @Dhivya_AD
1 Followers 55 Following
Tigem Telethon @Tigem_Telethon
2K Followers 539 Following The Telethon Institute of Genetics and Medicine (TIGEM), a Telethon Foundation organization, was founded in 1994 as a leading Italian research center.
European Journal of H... @ejhg_journal
8K Followers 7K Following The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical and cytogenetics research
Genetica-mente @MenteGenetica
111 Followers 70 Following Genetica-mente is alongside the citizen,public and private health to improve the quality of life by following the principles of Humanity,Ethics and Transparency
Selene Cipri @SeleneCipri
124 Followers 126 Following Geneticist. Owner of @MenteGenetica. Coordinator of the @SIGU_97 ‘s editorial board.
Dr.Jorge Nara @jorgeNara9
12 Followers 142 Following
Ivy Sutherland @ivy_sutherland
27 Followers 175 Following
hello Katy 🌵 @katyheringer
12 Followers 93 Following Biomédica com uma quedinha (na verdade um tombo) por citogenética.
Natalia Bailon @NataliaCBM
147 Followers 600 Following
Nancy Lucero Mtz @nancyluceromtz
147 Followers 2K Following
Herbspro.Com @herbspro
6K Followers 7K Following Herbspro, since 2004, is a leading online retailer with over 45000 products in vitamins, supplements and beauty care.
Share4Rare @Share4Rare
2K Followers 962 Following 💻🌍 Collective platform dedicated to promote research in #RareDiseases 🚀 | Tweets en español: @Share4Rare_es | Coordination: @IRSJD_info
ern euro_nmd @euro_nmd
2K Followers 686 Following Building bridges and breaking barriers in rare neuromuscular diseases.
ERN-ITHACA @ERNIthaca
1K Followers 371 Following European Reference Network on congenital malformations and rare intellectual disability (ERN-ITHACA).
EURORDIS-Rare Disease... @eurordis
32K Followers 1K Following An alliance of over 1,000 patient organisations working across borders and diseases to improve the lives of all people living with rare diseases.
AIM Associazione Ital... @miologia
79 Followers 98 Following L'associazione ha carattere multidisciplinare ed è aperta a tutti i professionisti che operano a qualunque livello nel campo delle malattie neuromuscolari.
ERDERA @ERDERA_org
4K Followers 2K Following The European Rare Diseases Research Alliance. Co-funded by European Union's @HorizonEU Research & Innovation programme. Views expressed are of authors only.
Oxford Nanopore @nanopore
66K Followers 9K Following 🌍Direct DNA/RNA analysis for anyone, anywhere 🧬Short to ultra-long reads in real-time for rapid insights 🔬Products for research use only
Società Italiana Gen... @SIGU_97
156 Followers 16 Following SIGU si propone come struttura di riferimento per problemi di interesse scientifico e sanitario circa la Genetica Umana in tutti i suoi aspetti.
MGZ - Medizinisch Gen... @MGZMuenchen
36 Followers 64 Following Das MGZ steht als Praxis für Humangenetik mit über 20 Jahren Erfahrung für hochqualifizierte Patientenversorgung und modernste humangenetische Labordiagnostik.
UniversitàVanvitelli @unicampania
900 Followers 50 Following Account ufficiale dell'Università degli studi della Campania Luigi Vanvitelli
RD-Connect @ConnectRD
3K Followers 577 Following An integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research
Orphanet @Orphanet
6K Followers 599 Following The reference portal and knowledge base for information on rare diseases and orphan drugs. Orphanet nomenclature, ORPHA codes, Orphanet RD Ontology @inserm
Solve-RD @Solve_RD
2K Followers 368 Following Solve-RD is a H2020 funded flagship EU project. We will solve large numbers of rare diseases, for which a molecular cause is not known yet.
Cell @CellCellPress
262K Followers 603 Following Cell aims to publish the most exciting and provocative research in biology. Posts by Scientific Editors on the Cell Editorial team.
PLOS Genetics @PLOSGenetics
35K Followers 411 Following A peer-reviewed, open-access journal. Tweets by journal staff. Header Image Credit: Gilles San Martin, pgen.1010333
Linfa Neurofibromatos... @Ass_linfa
226 Followers 563 Following LINFA vuole trovare una cura per le neurofibromatosi (NF), migliorare la qualità di vita dei pazienti, promuovere la conoscenza di questa sindrome genetica rara
UILDM Dir. Naz. @UILDMnazionale
2K Followers 737 Following Unione Italiana Lotta alla Distrofia Muscolare
Centro Clinico NeMO @CentroNemo
2K Followers 734 Following Centro per la presa in carico di persone affette da SLA, SMA e distrofie neuromuscolari 👉 Devolvi il tuo 5x1000: CF 05042160969 ➡️ https://t.co/EUQurAvG5F
Fondazione Telethon @Fondaz_Telethon
87K Followers 2K Following La Fondazione Telethon ETS (Ente del Terzo Settore) è nata nel 1990 per rispondere all'appello di pazienti affetti da malattie rare.
Tigem Telethon @Tigem_Telethon
2K Followers 539 Following The Telethon Institute of Genetics and Medicine (TIGEM), a Telethon Foundation organization, was founded in 1994 as a leading Italian research center.
European Journal of H... @ejhg_journal
8K Followers 7K Following The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical and cytogenetics research
Genetica-mente @MenteGenetica
111 Followers 70 Following Genetica-mente is alongside the citizen,public and private health to improve the quality of life by following the principles of Humanity,Ethics and Transparency
Science Magazine @ScienceMagazine
4.5M Followers 460 Following Cutting-edge research, news, commentary, and visuals from the Science family of journals. Follow @NewsfromScience for stories from our News team.
Nature Portfolio @NaturePortfolio
2.2M Followers 2K Following Nature Portfolio’s high-quality products and services across the life, physical, chemical and applied sciences is dedicated to serving the scientific community.
Nature Genetics @NatureGenet
128K Followers 1K Following Nature Genetics is a monthly journal publishing high impact research in genetics and genomics. RT/like=interesting/relevant, not necessarily endorsement.
Nature Reviews Geneti... @NatureRevGenet
93K Followers 1 Following Publishing reviews and commentaries across the fields of genetics and genomics. Part of @SpringerNature and @NaturePortfolio.
Genome Research @genomeresearch
54K Followers 286 Following A leading peer-reviewed genomics journal. Mastadon: https://t.co/v31waKv6mB Bluesky: https://t.co/tjRPsmnyT5 Submit: https://t.co/6vTemDJxKG
Genome Biology @GenomeBiology
90K Followers 442 Following Tweets about latest articles in the journal Genome Biology, conferences & more. Part of @SpringerNature. Also read our blogs (https://t.co/7GgHTUIKaX).
National Human Genome... @genome_gov
81K Followers 385 Following Funding research at the forefront of genomics to improve human health. Formerly the Human Genome Project. https://t.co/4hdQRFkFNU
Genetics in Medicine @GIMJournal
16K Followers 3K Following Genetics in Medicine, an official journal of @TheACMG Site use policy: https://t.co/gMGoSv2TJY. Cover image by https://t.co/CqIOOiJw29 user fanjianhua.
Selene Cipri @SeleneCipri
124 Followers 126 Following Geneticist. Owner of @MenteGenetica. Coordinator of the @SIGU_97 ‘s editorial board.
European Society of H... @eshgsociety
6K Followers 895 Following
ACMG @TheACMG
18K Followers 4K Following American College of Medical Genetics and Genomics (ACMG): Translating Genes into Health® @GIMJournal #ACMGMtg26 #ACMGFoundation Site Use https://t.co/9QchBLtCEG
ASHG @GeneticsSociety
52K Followers 309 Following The American Society of Human Genetics (ASHG) is the world's largest professional membership organization for human genetics & genomics specialists.
Vale Maltagliati @MissPitchITA
443 Followers 413 Following Elevator Pitch specialist, communication trainer, coach, mentor, tennis player
PNICube @PNICube
2K Followers 899 Following Il canale ufficiale della Rete Nazionale degli Incubatori Universitari e delle Start Cup CompetitionTrends for United States
You might like
