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Articles published in J Med Genet

Retrieve available abstracts of 7 articles:
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Single Articles


    November 2018
  1. MUELLER N, Sassa T, Morales-Gonzalez S, Schneider J, et al
    De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.
    J Med Genet. 2018 Nov 28. pii: jmedgenet-2018-105711.
    PubMed     Text format     Abstract available


    October 2018

  2. Correction: A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct.
    J Med Genet. 2018 Oct 4. pii: jmedgenet-2017-104721.
    PubMed     Text format    


    April 2018
  3. 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
  4. 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
  5. 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


    June 2017
  6. 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
  7. 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


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