نتائج البحث - "Fusté, Berta"

1

دورية أكاديمية

A single nucleotide deletion resulting in a frameshift in exon 4 of TAB2 is associated with a polyvalular syndrome

المؤلفون: Permanyer, Eduard, Laurie, Steven, Blasco-Lucas, Arnau, Maldonado, Giuliana, Amador-Catalan, Amaya, Ferrer-Curriu, Gemma, Fuste, Berta, Perez, Maria L., Gonzalez-Alujas, Teresa, Beltran, Sergi, Comas-Riu, Jaume, Bardají, Alfredo, Evangelista, Artur, Galiñanes, Manuel

المصدر: In European Journal of Medical Genetics April 2020 63(4)

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Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases

المؤلفون: Bullich, Gemma, Matalonga, Leslie, Pujadas, Montserrat, Papakonstantinou, Anastasios, Piscia, Davide, Tonda, Raúl, Artuch, Rafael, Gallano, Pia, Garrabou, Glòria, González, Juan R., Grinberg, Daniel, Guitart, Míriam, Laurie, Steven, Lázaro, Conxi, Luengo, Cristina, Martí, Ramon, Milà, Montserrat, Ovelleiro, David, Parra, Genís, Pujol, Aurora, Tizzano, Eduardo, Macaya Ruiz, Alfons, Palau, Francesc, Ribes, Antònia, Pérez-Jurado, Luis A., Beltran, Sergi, Schlüter, Agatha, Rodriguez-Palmero, Agustí, Cáceres, Alejandro, Nascimento, Andrés, García-Cazorla, Àngels, Cueto-González, Anna, Marcé-Grau, Anna, Ruiz Nel Lo, Anna, Martínez-Monseny, Antonio, Sànchez, Aurora, García, Belén, Pérez-Dueñas, Belén, Gel, Bernat, Fusté, Berta, Hernández-Ferrer, Carles, Casasnovas, Carlos, Ortez, Carlos, Arjona, César, Hernando-Davalillo, Cristina, Natera de Benito, Daniel, Picó Amador, Daniel, Gómez-Andrés, David, Yubero, Délia, Pelegrí-Sisó, Dolors, Verdura, Edgard, García-Arumí, Elena, Castellanos, Elisabeth, Gabau, Elisabeth, Tobías, Ester, López-Grondona, Fermina, Cardellach, Francesc, Garcia-Garcia, Francesc Josep, Munell, Francina, Tort, Frederic, Aznar, Gemma, Olivé-Cirera, Gemma, Tell, Gemma, Muñoz-Pujol, Gerard, Paramonov, Ida, Blanco, Ignacio, Madrigal, Irene, Valenzuela, Irene, Gut, Ivo, Cusco, Ivon, Trotta, Jean-Rémi, Cruz, Jordi, Diaz-Manera, Jordi, Milisenda, José César, Ma Grau, Josep, Garcia-Villoria, Judit, Armstrong, Judith, Cantó, Judith, Sala-Coromina, Júlia, Rodríguez-Revenga, Laia, Alias, Laura, Gort, Laura, González-Quereda, Lídia, Costa, Mar, Fernández-Callejo, Marcos, López-Sánchez, Marcos, Álvarez-Mora, Maria Isabel, Gut, Marta, Serrano, Mercedes, Raspall-Chaure, Miquel, Del Toro, Mireia, Bayés, Mònica, Baena Díez, Neus, Spataro, Nino, Capdevila, Núria, Ugarteburu, Olatz, Muñoz-Cabello, Patricia, Romero Duque, Penélope, Rabionet, Raquel, Rojas-García, Ricardo, Calvo, Rosa, Urreizti, Roser, Bernal, Sara, Boronat, Susana, Balcells, Susanna, Vendrell, Teresa, Universitat Autònoma de Barcelona

المصدر: JOURNAL OF MOLECULAR DIAGNOSTICS
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
The Journal of Molecular Diagnostics

مصطلحات موضوعية: biology, rare disease, Computational Biology, Nervous system Diseases, Genomics, Whole Exome Sequencing, Pathology and Forensic Medicine, Malalties del sistema nerviós, Genòmica, Rare Diseases, Exome Sequencing, genomics, Molecular Medicine, Humans, genetics, Exome, human, Malalties rares

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a0d359958be1dbfc846fb31cb9015358
https://www.scopus.com/inward/record.uri?eid=2-s2.0-85129716393&doi=10.1016/j.jmoldx.2022.02.003&partnerID=40&md5=c9b38d123b890e9a622b4f0023e8f719

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3

دورية أكاديمية

Transcriptomic Characterization of the Larval Stage in Gilthead Seabream (Sparus aurata) by 454 Pyrosequencing

المؤلفون: Yúfera, Manuel, Halm, Silke, Beltran, Sergi, Fusté, Berta, Planas, Josep V., Martínez-Rodríguez, Gonzalo

المصدر: Marine Biotechnology: An International Journal Focusing on Marine Genomics, Molecular Biology and Biotechnology. August 2012 14(4):423-435