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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 -
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المؤلفون: Manuel Rueda, Ali Torkamani
المصدر: BMC Bioinformatics, Vol 18, Iss 1, Pp 1-10 (2017)
BMC Bioinformaticsمصطلحات 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 -
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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 -
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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 -
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المصدر: Revista Colombiana de Reumatología (English Edition). 23:126-130
مصطلحات موضوعية: 030203 arthritis & rheumatology, 0301 basic medicine, medicine.medical_specialty, Pediatrics, education.field_of_study, business.industry, Population, Still Disease, Retrospective cohort study, General Medicine, Disease, medicine.disease, Surgery, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Adult-Onset Still Disease, medicine, Fever of unknown origin, business, education, Normal range, Rare disease
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::2b7e905135fdd52cb8418b0bc4c65657Test
https://doi.org/10.1016/j.rcreue.2016.06.001Test -
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المصدر: Revista Colombiana de Reumatología. 23:126-130
مصطلحات موضوعية: 030203 arthritis & rheumatology, 0301 basic medicine, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Rheumatology, business.industry, Medicine, business, Humanities
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5671b918c51aed1e5381e12669092c7dTest
https://doi.org/10.1016/j.rcreu.2016.01.003Test -
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المؤلفون: Evan D. Muse, Jonathan R. Lucas, Jennifer L. Wagner, Glenn N. Wagner, Eric J. Topol, Sarah E. Topol, Ali Torkamani, Tierney Phillips, Manuel Rueda
المصدر: Frontiers in Cardiovascular Medicine
Frontiers in Cardiovascular Medicine, Vol 4 (2017)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, lcsh:Diseases of the circulatory (Cardiovascular) system, Genomics, Disease, mitochondrial DNA, 030204 cardiovascular system & hematology, Biology, Cardiovascular Medicine, Sudden death, sudden cardiac death, Sudden cardiac death, whole exome sequencing, 03 medical and health sciences, 0302 clinical medicine, gene panel, medicine, Allele frequency, Exome sequencing, Genetic testing, Original Research, Genetics, medicine.diagnostic_test, Correction, Sudden infant death syndrome, medicine.disease, 3. Good health, 030104 developmental biology, lcsh:RC666-701, molecular autopsy, Cardiology and Cardiovascular Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a3aef2c315dc9c176a994557763a615Test
http://europepmc.org/articles/PMC5694161Test -
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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 -
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المؤلفون: Manuel Rueda, Chiara Pallara, Ruben Abagyan, Juan Fernández-Recio
المساهمون: Barcelona Supercomputing Center
المصدر: Recercat. Dipósit de la Recerca de Catalunya
instname
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)مصطلحات موضوعية: 0301 basic medicine, Fast Fourier Transform (FFT) algorithms, Protein Conformation, Cèl·lules, Computational biology, Molecular Dynamics Simulation, Molecular dynamics, Protein–protein interaction, Cellular processes, Enginyeria de proteïnes, 03 medical and health sciences, Protein structure, Computational chemistry, Humans, Macromolecular docking, Dinàmica molecular, Physical and Theoretical Chemistry, Conformational ensembles, Chemistry, Protein dynamics, Enginyeria biomèdica [Àrees temàtiques de la UPC], Proteins, MODELLER, Computer Science Applications, Cellular series, Generation of Protein Conformational Ensembles, 030104 developmental biology, Searching the conformational space for docking, Docking (molecular), Protein engineering, Protein Binding
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83dd7ef58182f4a3b530b8beacdabe42Test
http://hdl.handle.net/2117/89374Test