Home The Word Brain	My Amedeo FAQ Privacy About
	Amedeo Chinese HSK 1 – For Medical Students & Physicians A complete 20-lesson, 300-page Chinese HSK 1 course with a companion app in 21 languages — free forever. Arabic, Bengali, Dutch, English, Farsi, French, German, Hindi, Indonesian, Italian, Japanese, Korean, Portuguese, Russian, Spanish, Tagalog, Thai, Turkish, Ukrainian, Urdu, Vietnamese. By Bernd Sebastian Kamps and Andrea Melis

Otorhinolaryngology

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

Single Articles

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
    
    

Thank you for your interest in scientific medicine.

AMEDEO Otorhinolaryngology is free of charge. Privacy / Datenschutzerklärung | Imprint / Impressum