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  Otorhinolaryngology

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Articles published in J Med Genet

Retrieve available abstracts of 8 articles:
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Single Articles


    June 2025
  1. LI S, Feng Q, Mei L, Zhang S, et al
    The gamma-Actin with pathogenic variants of sites on actin-binding proteins caused earlier onset and more malignant progressive hearing loss.
    J Med Genet. 2025 Jun 17:jmg-2024-110573. doi: 10.1136/jmg-2024-110573.
    PubMed     Abstract available


    May 2025
  2. LIANG Y, Fang S, Cen X, Wang Y, et al
    Reclassification of candidate splicing variants refines clinically conflicting interpretations in SLC26A4-associated hearing loss.
    J Med Genet. 2025 May 11:jmg-2024-110425. doi: 10.1136/jmg-2024-110425.
    PubMed     Abstract available


    February 2025
  3. HIJIKATA M, Morimoto K, Ito M, Wakabayashi K, et al
    Robust detection of pathogenic HYDIN variants that cause primary ciliary dyskinesia using RNA-seq of nasal mucosa.
    J Med Genet. 2025;62:180-184.
    PubMed     Abstract available


    October 2024
  4. SMITH MJ, Perez-Becerril C, van der Meer M, Burghel GJ, et al
    Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis.
    J Med Genet. 2024;61:1011-1015.
    PubMed     Abstract available


    August 2024
  5. FORDE C, Smith MJ, Burghel GJ, Bowers N, et al
    NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study.
    J Med Genet. 2024;61:856-860.
    PubMed     Abstract available


    June 2024
  6. GOTO K, Koyanagi Y, Akiyama M, Murakami Y, et al
    Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
    J Med Genet. 2024;61:613-620.
    PubMed     Abstract available


    May 2024
  7. THOMAS L, Cuisset L, Papon JF, Tamalet A, et al
    Skewed X-chromosome inactivation drives the proportion of DNAAF6-defective airway motile cilia and variable expressivity in primary ciliary dyskinesia.
    J Med Genet. 2024;61:595-604.
    PubMed     Abstract available


    March 2024
  8. SMITH CEL, Laugel-Haushalter V, Hany U, Best S, et al
    Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.
    J Med Genet. 2024 Mar 8:jmg-2023-109728. doi: 10.1136/jmg-2023-109728.
    PubMed     Abstract available


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