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Otorhinolaryngology

Free Subscription Articles published in J Med Genet Retrieve available abstracts of 12 articles: HTML format

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April 2026
1. PHAM MT, Cruz-Granados P, Nadar-Ponniah PT, Chua HC, et al
   Rare missense variants in MYO7A and OTOP2 genes in a South Korean Meniere's disease cohort.
   J Med Genet. 2026 Apr 22:jmg-2025-111426. doi: 10.1136/jmg-2025-111426.
   PubMed     Abstract available
   
   
   March 2026
2. LI J, Zhan Z, Zhang X, Wu B, et al
   Comprehensive genotype-phenotype correlation analysis in 11 509 neonates carrying common deafness-associated pathogenic variants.
   J Med Genet. 2026 Mar 24:jmg-2025-111135. doi: 10.1136/jmg-2025-111135.
   PubMed     Abstract available
   
   
   September 2025
3. HUA W, Wang Y, Li X, Xiong W, et al
   Heterozygous TBX2 frameshift variants cause a novel syndromic hearing loss with incompletely penetrant nystagmus.
   J Med Genet. 2025 Sep 17:jmg-2025-110997. doi: 10.1136/jmg-2025-110997.
   PubMed     Abstract available
   
   
   June 2025
4. 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
5. 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
6. 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
7. 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
8. 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
9. 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
10. 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
11. 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
    
    
    November 2023
12. VELDE HM, Homans NC, Goedegebure A, Lanting CP, et al
    Analysis of Rotterdam Study cohorts confirms a previously identified RIPOR2 in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands.
    J Med Genet. 2023;60:1061-1066.
    PubMed     Abstract available
    
    

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