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Articles published in J Med Genet

Retrieve available abstracts of 10 articles:
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Single Articles


    September 2022
  1. ROMANELLI TAVARES VL, Guimaraes-Ramos SL, Zhou Y, Masotti C, et al
    New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements.
    J Med Genet. 2022;59:895-905.
    PubMed     Abstract available


    August 2022
  2. CHEN YS, Cabrera E, Tucker BJ, Shin TJ, et al
    TMPRSS3 expression is limited in spiral ganglion neurons: implication for successful cochlear implantation.
    J Med Genet. 2022 Aug 12. pii: jmg-2022-108654. doi: 10.1136/jmg-2022-108654.
    PubMed     Abstract available


  3. NABAIS SA MJ, Miller KA, McQuaid M, Koelling N, et al
    Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.
    J Med Genet. 2022;59:776-780.
    PubMed     Abstract available


    July 2022
  4. CATASUS N, Garcia B, Galvan-Femenia I, Plana A, et al
    Revisiting the UK Genetic Severity Score for NF2: a proposal for the addition of a functional genetic component.
    J Med Genet. 2022;59:678-686.
    PubMed     Abstract available


    February 2022
  5. PINGAULT V, Zerad L, Bertani-Torres W, Bondurand N, et al
    SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
    J Med Genet. 2022;59:105-114.
    PubMed     Abstract available


    January 2022
  6. HU K, Zatyka M, Astuti D, Beer N, et al
    WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome.
    J Med Genet. 2022;59:65-74.
    PubMed     Abstract available


    October 2021
  7. TERANISHI Y, Miyawaki S, Hongo H, Dofuku S, et al
    Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.
    J Med Genet. 2021;58:701-711.
    PubMed     Abstract available


    September 2021
  8. SONG P, Guan Y, Chen X, Wu C, et al
    Frameshift mutation of Timm8a1 gene in mouse leads to an abnormal mitochondrial structure in the brain, correlating with hearing and memory impairment.
    J Med Genet. 2021;58:619-627.
    PubMed     Abstract available


    July 2021
  9. GAO X, Huang SS, Qiu SW, Su Y, et al
    Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms.
    J Med Genet. 2021;58:465-474.
    PubMed     Abstract available


  10. FRANK DN, Giese APJ, Hafren L, Bootpetch TC, et al
    Otitis media susceptibility and shifts in the head and neck microbiome due to SPINK5 variants.
    J Med Genet. 2021;58:442-452.
    PubMed     Abstract available


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