Home The Word Brain	My Amedeo FAQ Privacy About
	Amedeo C49 English + 你好 (nǐ hǎo) = limitless possibilities. Start learning Mandarin Chinese today—for free, forever. Amedeo C49 is completely free, for life. Next week: +49.

Otorhinolaryngology

Free Subscription Articles published in J Med Genet Retrieve available abstracts of 8 articles: HTML format

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
   
   

Thank you for your interest in scientific medicine.

AMEDEO Otorhinolaryngology is free of charge.