Hasil Pencarian - Sergi Beltran

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  1. 1
    Transcriptomics of in vitro immune-stimulated hemocytes from the Manila clam Ruditapes philippinarum using high-throughput sequencing.

    Transcriptomics of in vitro immune-stimulated hemocytes from the Manila clam Ruditapes philippinarum using high-throughput sequencing. oleh Rebeca Moreira, Pablo Balseiro, Josep V Planas, Berta Fuste, Sergi Beltran, Beatriz Novoa, Antonio Figueras

    Diterbitkan 2012-01-01
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  2. 2
    Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.

    Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes. oleh Sheila Castro-Sánchez, María Álvarez-Satta, Mohamed A Tohamy, Sergi Beltran, Sophia Derdak, Diana Valverde

    Diterbitkan 2017-01-01
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  3. 3
    Phenomic and Genomic Characterization of a Mutant Platform in Cucurbita pepo

    Phenomic and Genomic Characterization of a Mutant Platform in Cucurbita pepo oleh Alicia García, Encarni Aguado, Genis Parra, Susana Manzano, Cecilia Martínez, Zoraida Megías, Gustavo Cebrián, Jonathan Romero, Sergi Beltrán, Dolores Garrido, Manuel Jamilena

    Diterbitkan 2018-08-01
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  4. 4
    High-throughput sequence analysis of turbot (Scophthalmus maximus) transcriptome using 454-pyrosequencing for the discovery of antiviral immune genes.

    High-throughput sequence analysis of turbot (Scophthalmus maximus) transcriptome using 454-pyrosequencing for the discovery of antiviral immune genes. oleh Patricia Pereiro, Pablo Balseiro, Alejandro Romero, Sonia Dios, Gabriel Forn-Cuni, Berta Fuste, Josep V Planas, Sergi Beltran, Beatriz Novoa, Antonio Figueras

    Diterbitkan 2012-01-01
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  5. 5
    Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.

    Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens. oleh José P Vaqué, Nerea Martínez, Ignacio Varela, Fidel Fernández, Marta Mayorga, Sophia Derdak, Sergi Beltrán, Thaidy Moreno, Carmen Almaraz, Gonzalo De Las Heras, Mónica Bayés, Ivo Gut, Javier Crespo, Miguel A Piris

    Diterbitkan 2015-01-01
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  6. 6
    Correction: Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens.

    Correction: Colorectal adenomas contain multiple somatic mutations that do not coincide with synchronous adenocarcinoma specimens. oleh José P Vaqué, Nerea Martínez, Ignacio Varela, Fidel Fernández, Marta Mayorga, Sophia Derdak, Sergi Beltrán, Thaidy Moreno, Carmen Almaraz, Gonzalo De Las Heras, Mónica Bayés, Ivo Gut, Javier Crespo, Miguel A Piris

    Diterbitkan 2015-01-01
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  7. 7
    Deep RNA sequencing of the skeletal muscle transcriptome in swimming fish.

    Deep RNA sequencing of the skeletal muscle transcriptome in swimming fish. oleh Arjan P Palstra, Sergi Beltran, Erik Burgerhout, Sebastiaan A Brittijn, Leonardo J Magnoni, Christiaan V Henkel, Hans J Jansen, Guido E E J M van den Thillart, Herman P Spaink, Josep V Planas

    Diterbitkan 2013-01-01
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  8. 8
    Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma

    Genetic lesions in MYC and STAT3 drive oncogenic transcription factor overexpression in plasmablastic lymphoma oleh Julia Garcia-Reyero, Nerea Martinez Magunacelaya, Sonia Gonzalez de Villambrosia, Sanam Loghavi, Angela Gomez Mediavilla, Raul Tonda, Sergi Beltran, Marta Gut, Ainara Pereña Gonzalez, Emanuele d'Ámore, Carlo Visco, Joseph D. Khoury, Santiago Montes-Moreno

    Diterbitkan 2020-04-01
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  9. 9
    Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package

    Epimutation detection in the clinical context: guidelines and a use case from a new Bioconductor package oleh Carlos Ruiz-Arenas, Leire Abarrategui, Carles Hernandez-Ferrer, Xavier Escribà-Montagut, Dolors Pelegrí-Sisó, Patricia Ryser-Welch, Martine Vrijheid, Mariona Bustamante, Regina Grazuleviciene, Johanna Lepeule, Mathew Mathai, Marina Vafeiadi, Sergi Beltran, Luis A Pérez-Jurado, Juan R González

    Diterbitkan 2023-12-01
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  10. 10
    Quantification of rare somatic single nucleotide variants by droplet digital PCR using SuperSelective primers

    Quantification of rare somatic single nucleotide variants by droplet digital PCR using SuperSelective primers oleh Verónica Pablo-Fontecha, Eva Hernández-Illán, Andrea Reparaz, Elena Asensio, Jordi Morata, Raúl Tonda, Sara Lahoz, Carolina Parra, Juan José Lozano, Anabel García-Heredia, Alejandro Martínez-Roca, Sergi Beltran, Francesc Balaguer, Rodrigo Jover, Antoni Castells, Ramon Trullàs, Petar Podlesniy, Jordi Camps

    Diterbitkan 2023-11-01
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  11. 11
    Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes

    Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes oleh Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A. C. ’t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia

    Diterbitkan 2024-02-01
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  12. 12
    Framework for quality assessment of whole genome cancer sequences

    Framework for quality assessment of whole genome cancer sequences oleh Justin P. Whalley, Ivo Buchhalter, Esther Rheinbay, Keiran M. Raine, Miranda D. Stobbe, Kortine Kleinheinz, Johannes Werner, Sergi Beltran, Marta Gut, Daniel Hübschmann, Barbara Hutter, Dimitri Livitz, Marc D. Perry, Mara Rosenberg, Gordon Saksena, Jean-Rémi Trotta, Roland Eils, Daniela S. Gerhard, Peter J. Campbell, Matthias Schlesner, Ivo G. Gut

    Diterbitkan 2020-10-01
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  13. 13
    Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease

    Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease oleh Serdal Gungor, Yavuz Oktay, Semra Hiz, Álvaro Aranguren-Ibáñez, Ipek Kalafatcilar, Ahmet Yaramis, Ezgi Karaca, Uluc Yis, Ece Sonmezler, Burcu Ekinci, Mahmut Aslan, Elmasnur Yilmaz, Bilge Özgör, Sunitha Balaraju, Nora Szabo, Steven Laurie, Sergi Beltran, Daniel G. MacArthur, Denisa Hathazi, Ana Töpf, Andreas Roos, Hanns Lochmuller, Isabelle Vernos, Rita Horvath

    Diterbitkan 2021-01-01
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  14. 14
    Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases

    Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases oleh Alberto Corvò, Leslie Matalonga, Dylan Spalding, Alexander Senf, Steven Laurie, Daniel Picó-Amador, Marcos Fernandez-Callejo, Ida Paramonov, Anna Foix Romero, Emilio Garcia-Rios, Jorge Izquierdo Ciges, Anand Mohan, Coline Thomas, Andres Felipe Silva Valencia, Csaba Halmagyi, Mallory Ann Freeberg, Ana Töpf, Rita Horvath, Gary Saunders, Ivo Gut, Thomas Keane, Davide Piscia, Sergi Beltran

    Diterbitkan 2023-02-01
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  15. 15
    Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome

    Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome oleh Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Reinhard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne

    Diterbitkan 2021-03-01
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  16. 16
    Wnt genes in colonic polyposis predisposition

    Wnt genes in colonic polyposis predisposition oleh Isabel Quintana, Mariona Terradas, Pilar Mur, Iris B.A.W. te Paske, Sophia Peters, Isabel Spier, Verena Steinke-Lange, Claudia Maestro, David Torrents, Montserrat Puiggròs, Romina Royo, Raul Tonda, Genís Parra, Davide Piscia, Sergi Beltrán, Matilde Navarro, Virginia Piñol, Joan Brunet, Noemi Gonzalez-Abuin, Gemma Aiza, Anna Sommer, Yasmijn van Herwaarden, Galuh Astuti, Elke Holinski-Feder, Nicoline Hoogerbrugge, Richarda M. de Voer, Stefan Aretz, Gabriel Capellá, Laura Valle

    Diterbitkan 2023-05-01
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  17. 17
    A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

    A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome oleh Antonio Atalaia, Rachel Thompson, Alberto Corvo, Leigh Carmody, Davide Piscia, Leslie Matalonga, Alfons Macaya, Angela Lochmuller, Bertrand Fontaine, Birte Zurek, Carles Hernandez-Ferrer, Carola Rheinard, David Gómez-Andrés, Jean-François Desaphy, Katherine Schon, Katja Lohmann, Matthew J. Jennings, Matthis Synofzik, Olaf Riess, Rabah Ben Yaou, Teresinha Evangelista, Thiloka Ratnaike, Virginie Bros-Facer, Gulcin Gumus, Rita Horvath, Patrick Chinnery, Steven Laurie, Holm Graessner, Peter Robinson, Hanns Lochmuller, Sergi Beltran, Gisèle Bonne

    Diterbitkan 2020-08-01
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  18. 18
    ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization

    ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization oleh Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol

    Diterbitkan 2023-09-01
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  19. 19
    The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research [version 1; peer review: 2 approved]

    The ELIXIR Human Copy Number Variations Community: building bioinformatics infrastructure for research [version 1; peer review: 2 approved] oleh David Salgado, Irina M. Armean, Michael Baudis, Sergi Beltran, Salvador Capella-Gutierrez, Denise Carvalho-Silva, Victoria Dominguez Del Angel, Joaquin Dopazo, Laura I. Furlong, Bo Gao, Leyla Garcia, Dietlind Gerloff, Ivo Gut, Attila Gyenesei, Nina Habermann, John M. Hancock, Marc Hanauer, Eivind Hovig, Lennart F. Johansson, Thomas Keane, Jan Korbel, Katharina B. Lauer, Steve Laurie, Brane Leskošek, David Lloyd, Tomas Marques-Bonet, Hailiang Mei, Katalin Monostory, Janet Piñero, Krzysztof Poterlowicz, Ana Rath, Pubudu Samarakoon, Ferran Sanz, Gary Saunders, Daoud Sie, Morris A. Swertz, Kirill Tsukanov, Alfonso Valencia, Marko Vidak, Cristina Yenyxe González, Bauke Ylstra, Christophe Béroud

    Diterbitkan 2020-10-01
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  20. 20
    Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe

    Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe oleh Nicolas Garnier, Joanne Berghout, Aldona Zygmunt, Deependra Singh, Kui A. Huang, Waltraud Kantz, Carl Rudolf Blankart, Sandra Gillner, Jiawei Zhao, Richard Roettger, Christina Saier, Jan Kirschner, Joern Schenk, Leon Atkins, Nuala Ryan, Kaja Zarakowska, Jana Zschüntzsch, Michela Zuccolo, Matthias Müllenborn, Yuen-Sum Man, Liz Goodman, Marie Trad, Anne Sophie Chalandon, Stefaan Sansen, Maria Martinez-Fresno, Shirlene Badger, Rudolf Walther van Olden, Robert Rothmann, Patrick Lehner, Christof Tschohl, Ludovic Baillon, Gulcin Gumus, Edith Gross, Rumen Stefanov, Georgi Iskrov, Ralitsa Raycheva, Kostadin Kostadinov, Elena Mitova, Moshe Einhorn, Yaron Einhorn, Josef Schepers, Miriam Hübner, Frauke Alves, Rowan Iskandar, Rudolf Mayer, Alessandra Renieri, Aneta Piperkova, Ivo Gut, Sergi Beltran, Mads Emil Matthiesen, Marion Poetz, Mats Hansson, Regina Trollmann, Emanuele Agolini, Silvia Ottombrino, Antonio Novelli, Enrico Bertini, Rita Selvatici, Marianna Farnè, Fernanda Fortunato, Alessandra Ferlini

    Diterbitkan 2023-01-01
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