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UDN
@
UDNconnect
United States
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The Undiagnosed Diseases Network is a research study focused on rare & undiagnosed conditions. Funded by @NIH. Tweets by UDN Coordinating Center @HarvardDBMI.
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2.051
Tweetovi
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155
Pratim
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3.776
Osobe koje vas prate
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UDN
@UDNconnect
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30. sij |
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3 years ago today, the UDN PEER held its first face-to-face meeting here at @harvardmed! Learn more about the PEER at udnconnect.org/peer #RareDisease #undiagnosed pic.twitter.com/WIST3yzr90
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UDN
@UDNconnect
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22. sij |
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New! Carlos Ferreira & colleagues follow up on 2018 COG4 publication (omim.org/entry/618150) w/ detailed clinical phenotypes of 14 individuals with Saul-Wilson syndrome pubmed.ncbi.nlm.nih.gov/31949312 #SaulWilson #COG4
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UDN
@UDNconnect
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22. sij |
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Now online in @GIMJournal: GATAD2B-associated Neurodevelopmental Disorder (GAND): Clinical and Molecular Insights Into a NuRD-related Disorder pubmed.ncbi.nlm.nih.gov/31949314 #GATAD2B #GAND
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UDN
@UDNconnect
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21. sij |
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ICYMI: the UDN Clinical Site @UCLAHealth was featured in the Fall 2019 issue of U Magazine! #raredisease uclahealth.org/u-magazine/ans… pic.twitter.com/TXSlglpKuM
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ACMG
@TheACMG
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10. sij |
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Now showing on TheACMGChannel, YouTube: A recording of ACMG & @GeneticsSociety’s Sept 26 2019 joint Congressional briefing on @UDNconnect. youtu.be/e-tOTBsJom0 Such briefings are one way ACMG educates lawmakers about #genetics & #genomics in healthcare. #medicalgenetics pic.twitter.com/4ZZdXNjc86
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UDN
@UDNconnect
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9. sij |
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Happening now- free registration & CMEs available! twitter.com/UDNconnect/sta…
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UDN
@UDNconnect
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8. sij |
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Join us at 1pm EST tomorrow (Thursday) for grand rounds hosted by the Intermountain West UDN Clinical Site at @UofUHealth! udnconnect.org/grandrounds
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UDN
@UDNconnect
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7. sij |
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“Our goal is to help end these diagnostic journeys. People with rare diseases are an underserved population, and we want to change that.” uclahealth.org/u-magazine/ans…
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UDN
@UDNconnect
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20. pro |
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New participant page posted! 1-year-old with T-cell lymphopenia, decreased IgG, and variant in RPA1. Contact us if you know others with these symptoms and variants in this gene! undiagnosed.hms.harvard.edu/participants/p…
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UDN
@UDNconnect
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19. pro |
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The latest issue of the UDN Participant Engagement and Empowerment Resource (PEER) newsletter is now online at udnconnect.org/PEER! #raredisease #undiagnosed pic.twitter.com/NPqLMcWxP0
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UDN
@UDNconnect
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16. pro |
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Participant page 155: 5-year-old with seizures, ataxia, brain abnormalities, postnatal microcephaly, severe language delay, and variants in THG1L. Reach out if you know of others with similar symptoms and variants in this gene! undiagnosed.hms.harvard.edu/participants/p…
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UDN
@UDNconnect
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13. pro |
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Please email us at UDN@hms.harvard.edu!
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UDN
@UDNconnect
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11. pro |
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Participant page 154: 8-year-old with global developmental day, autism, gait ataxia, and variant in MTSS2. Please contact us if you know of others with similar symptoms & variants in this gene! undiagnosed.hms.harvard.edu/participants/p…
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UDN
@UDNconnect
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11. pro |
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Join us at 1pm EST tomorrow (12/12) for grand rounds hosted by the UDN Model Organisms Screening Center @WUSTLmed. udnconnect.org/grandrounds
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A/Prof Jodie Ingles
@jodieingles27
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6. pro |
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Genomic Medicine Year in Review 2019 - Top 10 features @ClinGenResource gene curation, value of solving undiagnosed cases @UDNconnect and acute care genomics, to name a few! @AJHGNews cell.com/ajhg/fulltext/…
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UDN
@UDNconnect
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26. stu |
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Did you know there are now 12 UDN Clinical Sites around the United States? Learn more: udnconnect.org/sites pic.twitter.com/wIvyB2PKlS
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Katy Blakey
@KatyBlakeyNBC5
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21. stu |
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That smile! 🌟 At 4yrs old Conner Detten can not yet walk or speak, but he’s working at it every single day. He’s part of the Undiagnosed Disease Network. Doctors are not sure of his condition or prognosis, but it hasn’t stopped his determination. on.nbcdfw.com/UCDIZP6 @NBCDFW pic.twitter.com/cr6RrOftrl
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UDN
@UDNconnect
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19. stu |
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New participant page posted: 24-year-old with seizures, Madelung deformity, scoliosis, pectus excavatum, club foot, global developmental delay, and variant in RNF13. Reach out to us if you know of others with these symptoms and variants in this gene! undiagnosed.hms.harvard.edu/participants/p…
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UDN
@UDNconnect
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15. stu |
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Now online in @GIMJournal: De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder ncbi.nlm.nih.gov/pubmed/31723249
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ACMG
@TheACMG
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14. stu |
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Are you registered for the next ACMG Genomics Case Conference? This month’s conference will be Wednesday, November 20, 2019 from 2:00-3:00 PM EST, hosted by Washington University in St. Louis UDN Clinical Site. Register today at bit.ly/2XfOXWK #medicaleducation #GCchat pic.twitter.com/D1pm7Jo0UR
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