Kết quả tìm kiếm - María Concepción Alonso‐Cerezo
- Đang hiển thị 1 - 2 kết quả của 2
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Large scale multifactorial likelihood quantitative analysis of <i>BRCA1</i> and <i>BRCA2</i> variants: An ENIGMA resource to support clinical variant classification Bằng Michael T. Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lídia Feliubadaló, Cora M. Aalfs, Simona Agata, Kristiina Aittomäki, Elisa Alducci, María Concepción Alonso‐Cerezo, Norbert Arnold, Bernd Auber, Rachel Austin, Jacopo Azzollini, Judith Balmañà, Elena Barbieri, Claus R. Bartram, Ana Blanco, Britta Blümcke, Sandra Bonache, Bernardo Bonanni, Åke Borg, Beatrice Bortesi, Joan Brunet, Carla Bruzzone, Karolin Bucksch, Giulia Cagnoli, Trinidad Caldés, Almuth Caliebe, Maria A. Caligo, Mariarosaria Calvello, Gabriele Lorenzo Capone, Sandrine M. Caputo, Ileana Carnevali, Estela Carrasco, Virginie Caux‐Moncoutier, Pietro Cavalli, Giulia Cini, Edward Clarke, Paola Concolino, Elisa J. Cops, Laura Cortesi, Fergus J. Couch, Esther Darder, Miguel de la Hoya, Michael Dean, Irmgard Debatin, Jesús Del Valle, Capucine Delnatte, Nicolas Derive, Orland Dı́ez, Nina Ditsch, Susan M. Domchek, Véronique Dutrannoy, Diana Eccles, Hans Ehrencrona, Ute Enders, D. Gareth Evans, Chantal Farra, Ulrike Faust, Ute Felbor, Irène Feroce, Miriam Fine, William D. Foulkes, Henrique C.R. Galvão, Gaetana Gambino, Andrea Gehrig, Francesca Gensini, Anne‐Marie Gerdes, Aldo Germani, J Giesecke, Viviana Gismondi, Carolina Gómez, E. Gómez, Sara González, Èlia Grau, Sabine Grill, Eva Groß, Aliana Guerrieri‐Gonzaga, Marine Guillaud‐Bataille, Sara Gutiérrez‐Enríquez, Thomas Haaf, Karl Hackmann, Thomas van Overeem Hansen, Marion Harris, Jan Hauke, T. Heinrich, Heide Hellebrand, Karen Herold, Ellen Honisch, Judit Horváth, Claude Houdayer, Verena Hübbel, Sílvia Iglesias, À. Izquierdo, Paul A. James, Linda A.M. Janssen, Udo Jeschke, Silke Kaulfuß
Được phát hành 2019Artigo -
2
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications Bằng Irene Perea‐Romero, Gema Gordo, Ionut-Florin Iancu, Marta Del Pozo‐Valero, Berta Almoguera, Fiona Blanco‐Kelly, Ester Carreño, Belén Jimenez‐Rolando, Rosario López‐Rodríguez, Isabel Lorda‐Sánchez, Inmaculada Martín-Mérida, Lucía Pérez de Ayala, Rosa Riveiro-Álvarez, Elvira Rodríguez‐Pinilla, Saoud Tahsin Swafiri, María José Trujillo-Tiebas, Ana Bustamante‐Aragonés, Rocio Cardero‐Merlo, Ruth Fernández‐Sánchez, J. Gallego‐Merlo, Ines Garcia-Vara, Ascensión Gimenez-Pardo, Laura Horcajada-Burgos, Fernando Infantes‐Barbero, Esther Lantero, Miguel Ángel López-Martínez, Andrea Martínez‐Ramas, Lorena Ondo, Marta Rodríguez de Alba, C. Sánchez-Jimeno, C. Vélez-Monsalve, Cristina Villaverde, Olga Zurita, Domingo Aguilera‐Garcia, Jana Aguirre-Lambán, Ana Arteche‐López, Diego Cantalapiedra, Patrícia José, Liliana Galbis-Martinez, Maria García‐Hoyos, Carlos Lombardia, María Isabel López-Molina, Raquel Pérez-Carro, Luciana Rodrigues Jacy da Silva, Carmen Ramos, Rocío Sánchez-Alcudia, Iker Sánchez‐Navarro, Sorina D. Tatu, Elena Vallespín, Elena Aller, Sara Bernal, Maria J. Gamundi, Gema García‐García, Inmaculada Hernan, Teresa Jaijo, Guillermo Antiñolo, Montserrat Baiget, Miguel Carballo, José M. Millán, Diana Valverde, Rando Allikmets, Sandro Banfi, Frans P.M. Cremers, Rob W.J. Collin, Elfride De Baere, Hákon Hákonarson, Susanne Kohl, Carlo Rivolta, Dror Sharon, María Concepción Alonso‐Cerezo, María Juliana Ballesta‐Martínez, Sergi Beltrán, Carmen Benito López, Jaume Catalá‐Mora, Claudio Catalli, Carmen Cotarelo-Pérez, Miguel Fernández‐Burriel, Ana Fontalba-Romero, Enrique Galán‐Gómez, María García‐Barcina, Loida M. Garcia-Cruz, Blanca Gener, Belén Gil-Fournier, Nancy Govea, Encarna Guillén‐Navarro, I. Hernando Acero, Cristina Irigoyen, Silvia Izquierdo Álvarez, Isabel Llano‐Rivas, Maria A. López-Ariztegui, Vanesa López‐González, Fermina Lopez-Grondona, Loreto Martorell, Pilar Mendez-Perez, María Moreno‐Igoa, Raluca Oancea-Ionescu, Francesc Palau, Guiomar Pérez de Nanclares, Feliciano J. Ramos-Fuentes, Raquel Rodríguez‐López
Được phát hành 2021Artigo
Công cụ tìm kiếm:
Các môn học liên quan
Biology
Gene
Genetics
Medicine
ABCA4
Bioinformatics
Cohort
Compound heterozygosity
Computational biology
Environmental health
Epidemiology
Genetic heterogeneity
Genetic testing
Internal medicine
Medical genetics
Microbiology
Missense mutation
Mutation
Pathogenicity
Phenotype
Population
RNA
RNA splicing
Retinitis pigmentosa