检索结果 - Montserrat Rodriguez‐Ballesteros
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Auditory neuropathy in patients carrying mutations in the otoferlin gene (<i>OTOF</i>) 由 Montserrat Rodriguez‐Ballesteros, Francisco Castillo, Yolanda Martín, Miguel A. Moreno‐Pelayo, Constantino Morera, Félix Prieto, Jaime Marco, Antonio Ventura, Jaime Gallo‐Terán, Carmelo Morales‐Angulo, Cristina Navas, Germán Trinidad, M. Cruz Tapia, Felipe Moreno, Ignacio del Castillo
出版 2003Artigo -
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Tryptophan‐rich basic protein (<scp>WRB</scp>) mediates insertion of the tail‐anchored protein otoferlin and is required for hair cell exocytosis and hearing 由 Christian Vogl, Iliana Panou, Gulnara Yamanbaeva, Carolin Wichmann, Sara J. Mangosing, Fabio Vilardi, Artur A. Indzhykulian, Tina Pangršič, Rosamaria Santarelli, Montserrat Rodriguez‐Ballesteros, Thomas Weber, Sangyong Jung, María Elena Cantú-Cárdenas, Xudong Wu, Sonja M. Wojcik, Kelvin Y. Kwan, Ignacio del Castillo, Blanche Schwappach, Nicola Strenzke, David P. Corey, Shuh‐Yow Lin, Tobias Moser
出版 2016Artigo -
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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 由 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
出版 2008Artigo -
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A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impai... 由 Francisco Castillo, Montserrat Rodriguez‐Ballesteros, Araceli Álvarez, Tim Hutchin, Emanuela Leonardi, Camila Andréa de Oliveira, Héla Azaiez, Zippora Brownstein, Matthew R. Avenarius, Sandrine Marlin, Arti Pandya, Hashem Shahin, Kirby Siemering, Dominique Weil, Wim Wuyts, Luis A. Aguirre, Y. Martin, Miguel A. Moreno‐Pelayo, Manuela Villamar, Karen B. Avraham, H H Dahl, Moien Kanaan, W E Nance, Christine Petit, Richard J. Smith, Guy Van Camp, Edi Lúcia Sartorato, Alessandra Murgia, Felipe Moreno, Ignacio del Castillo
出版 2005Carta -
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Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome 由 Marine Legendre, Véronique Abadie, Tania Attié‐Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain, Sophie Blesson, Sophie Julia, Dominique Martin–Coignard, David Geneviève, Bruno Leheup, Sylvie Odent, Pierre‐Simon Jouk, Sandra Mercier, Laurence Faivre, Catherine Vincent‐Delorme, Christine Francannet, Sophie Naudion, Michèle Mathieu‐Dramard, Marie‐Ange Delrue, Alice Goldenberg, Delphine Héron, Philippe Parent, Renaud Touraine, Valérie Layet, Damien Sanlaville, Chloé Quēlin, Sébastien Moutton, Mélanie Fradin, Aurélia Jacquette, Sabine Sigaudy, Lucile Pinson, Pierre Sarda, Anne‐Marie Guerrot, Massimiliano Rossi, Alice Masurel‐Paulet, Salima El Chehadeh, Xavier Piguel, Montserrat Rodriguez‐Ballesteros, Stéphanie Ragot, Stanislas Lyonnet, Frédéric Bilan, Brigitte Gilbert‐Dussardier
出版 2017Artigo
相关主题
Medicine
Biology
Audiology
Gene
Anatomy
Auditory neuropathy
Genetics
Hearing loss
Neuroscience
Hair cell
Inner ear
Psychology
Receptor
Allele
Anosmia
Atresia
Audiometry
Auditory brainstem response
Biochemistry
Brain-derived neurotrophic factor
CHARGE syndrome
Cell biology
Choanal atresia
Cochlea
Cochlear nerve
Cognition
Cognitive psychology
Coloboma
Compound heterozygosity
Compound muscle action potential