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Articles published in J Med Genet

Retrieve available abstracts of 5 articles:
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    January 2017
  1. 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
  2. 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
  3. DI DONATO N, Neuhann T, Kahlert AK, Klink B, et al
    Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt.
    J Med Genet. 2016 Feb 3. pii: jmedgenet-2015-103511.
    PubMed     Text format     Abstract available

  4. 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

    February 2015
  5. JING W, Zongjie H, Denggang F, Na H, et al
    Mitochondrial mutations associated with aminoglycoside ototoxicity and hearing loss susceptibility identified by meta-analysis.
    J Med Genet. 2015;52:95-103.
    PubMed     Text format     Abstract available

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