المؤلفون: Manuel Rueda-Fernández, Lucía Melguizo-Rodríguez, Víctor J. Costela-Ruiz, Elvira de Luna-Bertos, Concepción Ruiz, Javier Ramos-Torrecillas, Rebeca Illescas-Montes

المصدر: Clinical and Experimental Dermatology. 47:1543-1549

مصطلحات موضوعية: Necrosis, Chlorhexidine, Anti-Infective Agents, Local, Eosine Yellowish-(YS), Humans, Hexetidine, Hydrogen Peroxide, Dermatology, Fibroblasts, Povidone-Iodine

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d5b3cdd7c4447e7ed5beea0bf0a568aTest
https://doi.org/10.1111/ced.15235Test

المؤلفون: Claudia Vasallo, Frédéric Haziza, Gemma Milla, Daniel Barrowdale, Manuel Rueda, Roberto Ariosa, Jordi Rambla, Carles Garcia-Linares, Silvia Bahena, Emilio Garcia-Rios, Babita Singh, Coline Thomas, Anand Mohan, Mallory A. Freeberg, Teresa D’Altri, Helen Parkinson, Aravind Sankar, Sabela de la Torre, Arcadi Navarro, Ashutosh Shimpi, Mauricio Moldes, Umuthan Uyan, Paul Flicek, Oscar Martinez Llobet, Bela Juhasz, Giselle Kerry, Dona Shaju, Marcos Casado Barbero, Dietmar Fernandez-Orth, Aina Jene, Lauren A Fromont, Roderic Guigó, Jorge Izquierdo Ciges, Thomas M. Keane, Anna Foix Romero

المصدر: Nucleic Acids Research

مصطلحات موضوعية: Genotype, AcademicSubjects/SCI00010, Datasets as Topic, Translational research, Phenome, Biology, History, 21st Century, Translational Research, Biomedical, Resource (project management), Genetics, Database Issue, Humans, Phenomics, Value chain, Register of data controllers, computer.programming_language, Metadata, Genome, Human, Information Dissemination, History, 20th Century, Data science, Data access, Phenotype, Key (cryptography), Elixir (programming language), computer, Confidentiality

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63a9c48ae4c3d97e79556278e23735e1Test
http://europepmc.org/articles/PMC8728218Test

المؤلفون: Jordi Rambla, Michael Baudis, Roberto Ariosa, Tim Beck, Lauren A. Fromont, Arcadi Navarro, Rahel Paloots, Manuel Rueda, Gary Saunders, Babita Singh, John D. Spalding, Juha Törnroos, Claudia Vasallo, Colin D. Veal, Anthony J. Brookes

المساهمون: Fundación 'la Caixa', UK Research and Innovation, European Commission, Swiss Institute of Bioinformatics, Swiss Personalized Health Network, University of Zurich, Rambla, Jordi, Baudis, Michael

المصدر: Digital.CSIC. Repositorio Institucional del CSIC
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مصطلحات موضوعية: 2716 Genetics (clinical), Clinical genomics, Programari, Medicina, Information Dissemination, GA4GH, REST API, Genomics, 10124 Institute of Molecular Life Sciences, Genòmica, Phenotype, Rare Diseases, 1311 Genetics, Genetics, 570 Life sciences, biology, Humans, Beacon, Data sharing, Software, Genetics (clinical), Data discovery

وصف الملف: application/pdf; Human_Mutation___2022___Rambla___Beacon_v2_and_Beacon_networks_A_lingua_franca_for_federated_data_discovery_in.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0acc9296e494285ac4c38f42811bf109Test
http://hdl.handle.net/10261/272266Test

المؤلفون: Dietmar Fernández-Orth, Manuel Rueda, Babita Singh, Mauricio Moldes, Aina Jene, Marta Ferri, Claudia Vasallo, Lauren A Fromont, Arcadi Navarro, Jordi Rambla

مصطلحات موضوعية: Quality Control, Metadata, Genòmica, Genome, High-Throughput Nucleotide Sequencing, Humans, Genomics, Molecular Biology, European Genome-Phenome Archive, Software, Information Systems

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd9d13e6d980e4cd9568a0b798846dceTest
http://hdl.handle.net/10230/53230Test

المؤلفون: Ana Ciscar Belles, Touria Makhoukhi, Manuel López-Cano, Pilar Hernández Granados, José Antonio Pereira Rodríguez, Antonio Utrera González, José M. Capitán Vallvey, Matías Pradas, Daniel Pérez Gomar, Manuel Bustos, Francisco Antonio Herrera Fernández, Juan A. Blanco, Joaquim Robres Puig, Rafael Villalobos, Dolors Güell Puigcercos, José María Puigcercós Fusté, Vicente Ayuso Osuna, Marta Piñol, Carles Olona Casas, Francisco Martínez Ródenas, Jordi Comajuncosas, Enric Sebastián Valverde, Sara Amador, Jaume Gelonch, Helena Vallverdú, Magda Abelló Sala, Antonio Veres Gómez, Rosa Gamón, Pedro García Peche, Miguel González Valverde, Miguel Ángel Martín Blanco, Ramón J Ferri, Elena Martí Ciñat, Providencia García Pastor, Carlos Montero, Miguel Ángel Lorenzo Liñán, Vicente Barbero, Miguel Ángel Morlan, José María Jover, Isabel Delgado Lillo, María Mercedes Sanz Sánchez, Leire Zarain Obrador, Alejandro Lusilla, Juan Jesús Cabeza Gómez, Antonio López, Teresa Butrón, Guillermo Supelano Eslait, José Luis Álvarez Conde, Baltasar Pérez Saborido, Mario Rodríguez López, Santiago Revuelta Álvarez, Pedro Trillo Parejo, José Luis Rodicio, Antonio Blanco, Agustín Juan Cano Maldonado, Ángel Zorraquino González, Esther Guisasola, Fernando Fernández, Javier Granell, Juan Antonio Bellido Luque, Juan Manuel Rueda Pérez, Mª Pilar Anaya Reig, Rafael Gómez Sabater, Rosa Ana García Díaz, Verónica Alonso

المصدر: Cirugia espanola. 100(6)

مصطلحات موضوعية: Cross-Sectional Studies, Postoperative Complications, Recurrence, General Engineering, Humans, Incisional Hernia, Surgical Instruments, Hernia, Umbilical

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f88a27b789ea7e1e213f2842c840ed3Test
https://pubmed.ncbi.nlm.nih.gov/35618203Test

المؤلفون: Emily G. Spencer, Glenn N. Wagner, Ali Torkamani, Jonathan R. Lucas, Eric J. Topol, Manuel Rueda, Steven Campman, Evan D. Muse, Elias L. Salfati, Sarah E. Topol

المصدر: Genome Medicine
Genome Medicine, Vol 11, Iss 1, Pp 1-8 (2019)

مصطلحات موضوعية: 0301 basic medicine, Male, Myosin Light Chains, lcsh:QH426-470, Adenosine Deaminase, Ubiquitin-Protein Ligases, lcsh:Medicine, 030105 genetics & heredity, Bioinformatics, Sudden death, 03 medical and health sciences, Death, Sudden, Young Adult, Rare Diseases, Molecular autopsy, Nucleotidases, Databases, Genetic, Exome Sequencing, Genetics, Medicine, Humans, Idiopathic disease, Exome, Automated periodic re-analysis, Child, Molecular Biology, Gene, Rare and undiagnosed diseases, Genetics (clinical), Exome sequencing, Likely pathogenic, business.industry, Research, lcsh:R, Medical genetics, Genetic Variation, Sudden unexplained death, Phenotype, 3. Good health, lcsh:Genetics, 030104 developmental biology, Child, Preschool, Whole-exome sequencing, Molecular Medicine, Female, business, Rare disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2426bd824347d513ebcc3a6e10c04c7aTest
https://pubmed.ncbi.nlm.nih.gov/31847883Test

المؤلفون: Manuel Rueda, Ali Torkamani

المصدر: BMC Bioinformatics, Vol 18, Iss 1, Pp 1-10 (2017)
BMC Bioinformatics

مصطلحات موضوعية: 0301 basic medicine, Male, Mitochondrial DNA, Annotation, Genomics, Context (language use), Computational biology, Biology, Heteroplasmy, lcsh:Computer applications to medicine. Medical informatics, Biochemistry, Genome, Sudden death, DNA, Mitochondrial, Haplogroup, Body Mass Index, Cohort Studies, 03 medical and health sciences, Structural Biology, Humans, Molecular Biology, lcsh:QH301-705.5, Exome sequencing, Genetics, Genome, Human, Applied Mathematics, Genetic Variation, High-Throughput Nucleotide Sequencing, Computer Science Applications, 030104 developmental biology, Healthy aging, lcsh:Biology (General), lcsh:R858-859.7, Female, Software

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d4160c9cfcb46ca299a1b7bbb0558dTest
http://link.springer.com/article/10.1186/s12859-017-1778-6Test

المؤلفون: Dawid Warszycki, Ruben Abagyan, Grzegorz Satała, Zdzisław Chilmonczyk, Kurt Kristiansen, Stefan Mordalski, Krzysztof Rataj, Andrzej J. Bojarski, Ingebrigt Sylte, Manuel Rueda

المصدر: Journal of Chemical Information and Modeling. 57:311-321

مصطلحات موضوعية: 0301 basic medicine, Protein Conformation, Stereochemistry, General Chemical Engineering, Drug Evaluation, Preclinical, Computational biology, Library and Information Sciences, Biology, Crystallography, X-Ray, Ligands, Article, 03 medical and health sciences, Serotonin 1A Receptor, Humans, General Chemistry, Computer Science Applications, Molecular Docking Simulation, HEK293 Cells, 030104 developmental biology, Template, Structural Homology, Protein, Docking (molecular), Receptor, Serotonin, 5-HT1A, 5-HT1A receptor, Monte Carlo Method, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb54efd1629151ace84c6ce1977c30c0Test
https://doi.org/10.1021/acs.jcim.6b00263Test

المؤلفون: Erick R. Scott, Eric J. Topol, Nathan E. Wineinger, Dale L. Bodian, Sarah E. Topol, Ashley A. Scott-Van Zeeland, Galina Erikson, Manuel Rueda, Bhuvan Molparia, John E. Niederhuber, Ali Torkamani

المصدر: Cell. 165:1002-1011

مصطلحات موضوعية: Male, 0301 basic medicine, Aging, media_common.quotation_subject, Longevity, Genome-wide association study, Coronary Artery Disease, Disease, Biology, Article, General Biochemistry, Genetics and Molecular Biology, Cohort Studies, 03 medical and health sciences, Alzheimer Disease, medicine, Genetic predisposition, Humans, Genetic Predisposition to Disease, Cognitive decline, Aged, media_common, Aged, 80 and over, Genetics, Whole genome sequencing, medicine.disease, 3. Good health, 030104 developmental biology, Cognitive Aging, Cohort, Female, Alzheimer's disease, Genome-Wide Association Study

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99b172015f36f91ce406ea71cd56cd72Test
https://doi.org/10.1016/j.cell.2016.03.022Test

المؤلفون: Manuel Rueda, Emily G. Spencer, Tierney Phillips, Marilyn C. Jones, Sarah E. Topol, Glenn Oliveira, Ali Torkamani

المصدر: Genetics in Medicine

مصطلحات موضوعية: 0301 basic medicine, musculoskeletal diseases, Adult, Male, Turner-Kieser syndrome, medicine.medical_specialty, Adolescent, LIM-Homeodomain Proteins, WIF1, Kidney, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Nail-Patella Syndrome, medicine, Humans, skin and connective tissue diseases, nail dysplasia, Genetics (clinical), Exome sequencing, Nail patella syndrome, Adaptor Proteins, Signal Transducing, Aged, Genetics, integumentary system, business.industry, Brief Report, Genetic disorder, Kidney metabolism, Patella, Fong disease, medicine.disease, musculoskeletal system, Dermatology, Phenotype, 3. Good health, Pedigree, Repressor Proteins, 030104 developmental biology, medicine.anatomical_structure, Mutation (genetic algorithm), Mutation, Nail (anatomy), Female, business, HOOD syndrome, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::637c94723f74054474b27183ee753644Test
https://pubmed.ncbi.nlm.nih.gov/28383544Test