Hussman Institute for Human Genomics

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    Projects

  • Research Output

    A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores

    Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN), Mar 3 2020, In : Neurology. 94, 9, p. e884-e896

    Research output: Contribution to journalComment/debate

  • Analyses of del(GJB6-D13S1830) and del(GJB6-D13S1834) deletions in a large cohort with hearing loss: Caveats to interpretation of molecular test results in multiplex families

    Pandya, A., O'Brien, A., Kovasala, M., Bademci, G., Tekin, M. & Arnos, K. S., Apr 1 2020, In : Molecular Genetics and Genomic Medicine. 8, 4, e1171.

    Research output: Contribution to journalArticle

    Open Access
  • 1 Scopus citations