UDN

@UDNconnect

The Undiagnosed Diseases Network is a research study focused on rare & undiagnosed conditions. Funded by . Tweets by UDN Coordinating Center .

United States
udnconnect.org
Vrijeme pridruživanja: travanj 2014.
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  1. Prikvačeni tweet
    26. stu 2019.

    Did you know there are now 12 UDN Clinical Sites around the United States? Learn more:

    13 proslijeđenih tweetova 21 korisnik označava da mu se sviđa
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  2. 30. sij

    3 years ago today, the UDN PEER held its first face-to-face meeting here at ! Learn more about the PEER at

    4 proslijeđena tweeta 14 korisnika označava da im se sviđa
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  3. 22. sij

    New! Carlos Ferreira & colleagues follow up on 2018 COG4 publication () w/ detailed clinical phenotypes of 14 individuals with Saul-Wilson syndrome

    2 korisnika označavaju da im se sviđa
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  4. 22. sij

    Now online in : GATAD2B-associated Neurodevelopmental Disorder (GAND): Clinical and Molecular Insights Into a NuRD-related Disorder

    2 proslijeđena tweeta 4 korisnika označavaju da im se sviđa
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  5. 21. sij

    ICYMI: the UDN Clinical Site was featured in the Fall 2019 issue of U Magazine!

    2 proslijeđena tweeta 3 korisnika označavaju da im se sviđa
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  6. proslijedio/la je Tweet
    10. sij

    Now showing on TheACMGChannel, YouTube: A recording of ACMG & ’s Sept 26 2019 joint Congressional briefing on . Such briefings are one way ACMG educates lawmakers about & in healthcare.

    9 proslijeđenih tweetova 13 korisnika označava da im se sviđa
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  7. 9. sij

    Happening now- free registration & CMEs available!

    Join us at 1pm EST tomorrow (Thursday) for grand rounds hosted by the Intermountain West UDN Clinical Site at !
    2 korisnika označavaju da im se sviđa
    Poništi
  8. 8. sij

    Join us at 1pm EST tomorrow (Thursday) for grand rounds hosted by the Intermountain West UDN Clinical Site at !

    1 proslijeđeni tweet 2 korisnika označavaju da im se sviđa
    Poništi
  9. 7. sij

    “Our goal is to help end these diagnostic journeys. People with rare diseases are an underserved population, and we want to change that.”

    7 proslijeđenih tweetova 14 korisnika označava da im se sviđa
    Poništi
  10. 20. pro 2019.

    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!

    7 proslijeđenih tweetova 4 korisnika označavaju da im se sviđa
    Poništi
  11. 19. pro 2019.

    The latest issue of the UDN Participant Engagement and Empowerment Resource (PEER) newsletter is now online at !

    3 proslijeđena tweeta 7 korisnika označava da im se sviđa
    Poništi
  12. 16. pro 2019.

    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!

    8 proslijeđenih tweetova 3 korisnika označavaju da im se sviđa
    Poništi
  13. 11. pro 2019.

    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!

    1 reply 14 proslijeđenih tweetova 11 korisnika označava da im se sviđa
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  14. 11. pro 2019.

    Join us at 1pm EST tomorrow (12/12) for grand rounds hosted by the UDN Model Organisms Screening Center .

    1 reply 2 proslijeđena tweeta 3 korisnika označavaju da im se sviđa
    Poništi
  15. proslijedio/la je Tweet
    5. pro 2019.

    Genomic Medicine Year in Review 2019 - Top 10 features ⁦⁩ gene curation, ⁦value of solving undiagnosed cases ⁦⁩ and acute care genomics, to name a few! ⁦⁩

    14 proslijeđenih tweetova 29 korisnika označava da im se sviđa
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  16. proslijedio/la je Tweet
    21. stu 2019.

    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.

    1 reply 4 proslijeđena tweeta 19 korisnika označava da im se sviđa
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  17. 19. stu 2019.

    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!

    4 proslijeđena tweeta 4 korisnika označavaju da im se sviđa
    Poništi
  18. 15. stu 2019.

    Now online in : De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder

    3 proslijeđena tweeta 5 korisnika označava da im se sviđa
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  19. proslijedio/la je Tweet
    14. stu 2019.

    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

    4 proslijeđena tweeta 5 korisnika označava da im se sviđa
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  20. 14. stu 2019.

    Happening now! Shilpa Kobren of lab presenting grand rounds on computational workflows at UDN sites

    3 proslijeđena tweeta 8 korisnika označava da im se sviđa
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