Bilaketaren emaitzak - Klemens Frei
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A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (<i>OTOF</i>) in subjects with nonsyndromic hearing impairment and auditory neuropathy nork Montserrat Rodriguez‐Ballesteros, Raúl Reynoso, M. A. Gil Olarte, Manuela Villamar, Constantino Morera, Rosamaria Santarelli, Edoardo Arslan, Carme Medá, Carlos Curet, Christiane Völter, Manuel Sainz-Quevedo, Pierangela Castorina, Umberto Ambrosetti, Stefano Berrettini, Klemens Frei, Socorro Tedín, Janine Smith, M. Cruz Tapia, Laura Cavallé, Nancy Gélvez, Paola Primignani, Elena Gómez-Rosas, Mirta Martín, Miguel A. Moreno‐Pelayo, Marta Lucía Tamayo, José Moreno-Barral, Felipe Moreno, Ignacio del Castillo
Argitaratua 2008Artigo
Bilaketa egiteko lanabesak:
Antzeko gaiak
Audiology
Biology
Gene
Genetics
Hearing loss
Medicine
Allele
Auditory neuropathy
Comparative genomic hybridization
Compound heterozygosity
Copy-number variation
Environmental health
Exon
Gene dosage
Gene duplication
Gene expression
Genome
Haplotype
Locus (genetics)
Multiplex
Multiplex ligation-dependent probe amplification
Mutation
Population