Showing 1 - 16 results of 16 Refine Results
  1. 1
    Academic Journal

    Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

    Authors: Eisenberger Tobias, Slim Rima, Mansour Ahmad, Nauck Markus, Nürnberg Gudrun, Nürnberg Peter, Decker Christian, Dafinger Claudia, Ebermann Inga, Bergmann Carsten, Bolz Hanno

    Source: Orphanet Journal of Rare Diseases, Vol 7, Iss 1, p 59 (2012)

    Subject Terms: Usher syndrome, Deafness, Retinitis pigmentosa, ABHD12, PHARC, Medicine

    File Description: electronic resource

    Relation: http://www.ojrd.com/content/7/1/59; https://doaj.org/toc/1750-1172

    Access URL: https://doaj.org/article/e2f4483210944afc8241d9b2871bc3f1

    Find It @ SCU Libraries View record from DOAJ
    PDF Full Text
    Save to List
  2. 2
    Academic Journal

    An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians.

    Authors: Ebermann, Inga1, Koenekoop, Robert K.2, Lopez, Irma2, Bou-Khzam, Lara2, Pigeon, Renée2, Bolz, Hanno J.1

    Source: European Journal of Human Genetics. Jan2009, Vol. 17 Issue 1, p80-84. 5p. 1 Diagram, 1 Chart, 1 Map.

    Subject Terms: *USHER'S syndrome, *GENETIC disorders, *RETINAL degeneration, *HUMAN biology, *HUMAN genetics

    Find It @ SCU Libraries
    PDF Full Text
    Save to List
  3. 3
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    Save to List
  4. 4
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    PDF Full Text
    Save to List
  5. 5
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    Linked Full Text
    Save to List
  6. 6
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    Save to List
  7. 7
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    Save to List
  8. 8
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    Save to List
  9. 9
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    PDF Full Text
    Save to List
  10. 10
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    Save to List
  11. 11
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    Save to List
  12. 12
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    Save to List
  13. 13
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    Save to List
  14. 14
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    PDF Full Text
    Save to List
  15. 15
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    Save to List
  16. 16
    Academic Journal

    This result is not displayed to guests.

    View record from ISI Web of Science
    Save to List

Search Tools: