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Articles published in J Med Genet

Retrieve available abstracts of 5 articles:
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Single Articles

    August 2017
  1. CHATTARAJ P, Munjal T, Honda K, Rendtorff ND, et al
    A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
    J Med Genet. 2017 Aug 5. pii: jmedgenet-2017-104721.
    PubMed     Text format     Abstract available

    March 2017
  2. FU Q, Xu M, Chen X, Sheng X, et al
    CEP78 is mutated in a distinct type of Usher syndrome.
    J Med Genet. 2017;54:190-195.
    PubMed     Text format     Abstract available

    January 2017
  3. XING G, Yao J, Liu C, Wei Q, et al
    GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss.
    J Med Genet. 2017 Jan 17. pii: jmedgenet-2016-104320.
    PubMed     Text format     Abstract available

    April 2016
  4. LAI M, Pifferi M, Bush A, Piras M, et al
    Gene editing of DNAH11 restores normal cilia motility in primary ciliary dyskinesia.
    J Med Genet. 2016;53:242-9.
    PubMed     Text format     Abstract available

    February 2016
  5. PRASAD MK, Geoffroy V, Vicaire S, Jost B, et al
    A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
    J Med Genet. 2016;53:98-110.
    PubMed     Text format     Abstract available

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