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Otorhinolaryngology

Free Subscription Articles published in J Med Genet Retrieve available abstracts of 11 articles: HTML format

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March 2008
1. NOZU K , Inagaki T, Fu XJ, Nozu Y, et al
   Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness.
   J Med Genet. 2008;45:182-6.
   PubMed     Related articles    Abstract available
   
   
   November 2007
2. DE ZWART-STORM EA , Hamm H, Stoevesandt J, Martin P, et al
   A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.
   J Med Genet. 2007;.
   PubMed     Related articles    Abstract available
   
   
   
3. VAHTERISTO P , Kokko A, Saksela O, Aittomaki K, et al
   Blood-derived gene-expression profiling in unravelling susceptibility to recessive disease.
   J Med Genet. 2007;44:718-20.
   PubMed     Related articles    Abstract available
   
   
   July 2007
4. MATOS TD , Caria H, Simoes-Teixeira H, Aasen T, et al
   A novel hearing loss related mutation occurring in the GJB2 basal promoter.
   J Med Genet. 2007;.
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5. EVANS DG , Ramsden RT, Shenton A, Gokhale C, et al
   Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification.
   J Med Genet. 2007;44:424-8.
   PubMed     Related articles    Abstract available
   
   
   June 2007
6. ELBRACHT M , Senderek J, Eggermann T, Thurmer C, et al
   Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
   J Med Genet. 2007;44:e81.
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   May 2007
7. VAN EYKEN E , Van Camp G, Fransen E, Topsakal V, et al
   The N-acetyltransferase 2 polymorphism NAT2*6A is a causative factor for Age Related Hearing Impairment.
   J Med Genet. 2007;.
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8. DESIR J , Moya G, Reish O, Van Regemorter N, et al
   Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy.
   J Med Genet. 2007;44:322-6.
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   April 2007
9. NISHIMURA G , Nakashima E, Hirose Y, Cole T, et al
   The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.
   J Med Genet. 2007;44:e73.
   PubMed     Related articles    Abstract available
   
   
   March 2007
10. JAIJO T , Aller E, Beneyto M, Najera C, et al
    MYO7A mutation screening in Usher syndrome type I patients from diverse origins.
    J Med Genet. 2007;44:e71.
    PubMed     Related articles   
    
    
    February 2007
11. CREMERS FP , Kimberling WJ, Kulm M, de Brouwer AP, et al
    Development of a genotyping microarray for Usher syndrome.
    J Med Genet. 2007;44:153-60.
    PubMed     Related articles    Abstract available
    
    

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