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Articles published in J Med Genet

Retrieve available abstracts of 9 articles:
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Single Articles


    April 2018
  1. BOOTH KT, Kahrizi K, Najmabadi H, Azaiez H, et al
    Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.
    J Med Genet. 2018 Apr 27. pii: jmedgenet-2018-105349.
    PubMed     Text format     Abstract available


    March 2018
  2. AHMED ZM, Jaworek TJ, Sarangdhar GN, Zheng L, et al
    Inframe deletion of human ESPN is associated with deafness, vestibulopathy and vision impairment.
    J Med Genet. 2018 Mar 23. pii: jmedgenet-2017-105221.
    PubMed     Text format     Abstract available


    February 2018
  3. GAO X, Yuan YY, Lin QF, Xu JC, et al
    Mutation of IFNLR1, an interferon lambda receptor 1, is associated with autosomal-dominant non-syndromic hearing loss.
    J Med Genet. 2018 Feb 16. pii: jmedgenet-2017-104954.
    PubMed     Text format     Abstract available


    August 2017
  4. 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


    June 2017
  5. BRUEL AL, Franco B, Duffourd Y, Thevenon J, et al
    Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes.
    J Med Genet. 2017;54:371-380.
    PubMed     Text format     Abstract available


    March 2017
  6. 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
  7. 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
  8. 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
  9. 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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