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1
المؤلفون: Ramon Massoni-Badosa, Paula Soler-Vila, Sergio Aguilar-Fernández, Juan C. Nieto, Marc Elosua-Bayes, Domenica Marchese, Marta Kulis, Amaia Vilas-Zornoza, Marco Matteo Bühler, Sonal Rashmi, Clara Alsinet, Ginevra Caratù, Catia Moutinho, Sara Ruiz, Patricia Lorden, Giulia Lunazzi, Dolors Colomer, Gerard Frigola, Will Blevins, Sara Palomino, David Gomez-Cabrero, Xabier Agirre, Marc A. Weniger, Federico Marini, Francisco Javier Cervera-Paz, Peter M. Baptista, Isabel Vilaseca, Felipe Prosper, Ralf Küppers, Ivo Glynne Gut, Elias Campo, José Ignacio Martin-Subero, Holger Heyn
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f378017856d794739f5a90b007723bebTest
https://doi.org/10.1101/2022.06.24.497299Test -
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المؤلفون: Ieva Keraite, Philipp Becker, Davide Canevazzi, Cristina Frias-López, Marc Dabad, Raúl Tonda-Hernandez, Ida Paramonov, Matthew John Ingham, Isabelle Brun-Heath, Jordi Leno, Anna Abulí, Elena Garcia-Arumí, Simon Charles Heath, Marta Gut, Ivo Glynne Gut
المساهمون: Institut Català de la Salut, [Keraite I, Becker P, Canevazzi D, Frias-López C, Dabad M, Tonda-Hernandez R] CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain. [Leno J, Abulí A] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Garcia-Arumí E] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca en Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Scientia
مصطلحات موضوعية: CRISPR-Cas systems, General Physics and Astronomy, ADN mitocondrial, Genoma humà, fenómenos genéticos::estructuras genéticas::genoma::genoma humano [FENÓMENOS Y PROCESOS], DNA, Mitochondrial, General Biochemistry, Genetics and Molecular Biology, Genomic analysis, Mitochondrial genome, Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::DNA::DNA, Circular::DNA, Mitochondrial [CHEMICALS AND DRUGS], nucleótidos y nucleósidos de ácidos nucleicos::ácidos nucleicos::ADN::ADN circular::ADN mitocondrial [COMPUESTOS QUÍMICOS Y DROGAS], Genetic Phenomena::Genetic Structures::Genome::Genome, Human [PHENOMENA AND PROCESSES], Deoxyribonuclease I, Humans, DNA sequencing, Genetic Phenomena::Genetic Structures::Genome::Genome, Mitochondrial [PHENOMENA AND PROCESSES], Multidisciplinary, Genome, Human, Nucleotides, High-Throughput Nucleotide Sequencing, General Chemistry, Sequence Analysis, DNA, Data processing, Genome, Mitochondrial, RNA, fenómenos genéticos::estructuras genéticas::genoma::genoma mitocondrial [FENÓMENOS Y PROCESOS]
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8b793134063b3c4f0e49bcb3b7f27fdcTest
https://pubmed.ncbi.nlm.nih.gov/36202811Test -
3
المؤلفون: Ieva Keraite, Philipp Becker, Davide Canevazzi, Maria C. Frias-López, Marc Dabad, Raúl Tonda-Hernandez, Ida Paramonov, Matthew John Ingham, Isabelle Brun-Heath, Jordi Leno, Anna Abulí, Elena Garcia-Arumí, Simon Heath, Marta Gut, Ivo Glynne Gut
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3f45f0caafebd7057ec3f12a78151ba7Test
https://doi.org/10.1101/2022.02.08.479581Test -
4
المصدر: Methods in molecular biology (Clifton, N.J.). 1708
مصطلحات موضوعية: DNA Repair Enzymes, Nucleotides, Tumor Suppressor Proteins, DNA, Single-Stranded, Humans, Sulfites, CpG Islands, Sequence Analysis, DNA, DNA Methylation, Promoter Regions, Genetic, DNA Modification Methylases, Polymerase Chain Reaction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::3fadd04946ae42e3608c658aa12e6b21Test
https://pubmed.ncbi.nlm.nih.gov/29224157Test -
5
المؤلفون: Monica Di Paola, Carlotta De Filippo, Irene, Stefanini, Lisa, Rizzetto, Luisa, Berná, Matteo, Ramazzotti, Leonardo, Dapporto, Damariz, Rivero, Ivo Glynne Gut, Jean-Luc, Legras, Noemi, Tocci, Lenucci, Marcello S., Luigina, Romani, Paolo, Lionetti, Duccio, Cavalieri
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______310::bd24ca1821714331dd488a17cb58fe93Test
http://hdl.handle.net/2158/1107827Test -
6
المؤلفون: Mònica, Bayés, Simon, Heath, Ivo Glynne, Gut
المصدر: Current topics in behavioral neurosciences. 12
مصطلحات موضوعية: Genetic Research, Genome, Human, Computational Biology, Humans, Genomics, Sequence Analysis, DNA, Epigenesis, Genetic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::295257f02f55b147b2be05d33a04a6feTest
https://pubmed.ncbi.nlm.nih.gov/22331695Test -
7
المؤلفون: Frank J. Probst, Federica Di Palma, Wenhui Huang, Joel E. Richardson, Rebecca R. Corrigan, Yueming Ding, Laura G. Reinholdt, Heather Fairfield, Stephen A. Murray, Michelle Curtain, Mary Barter, Daniel J. Gerhardt, Jay Shendure, Jeffrey A. Jeddeloh, Carol J. Bult, Kerstin Lindblad-Toh, Leah Rae Donahue, Todd Richmond, David E. Bergstrom, Mona S. Spector, Snaevar Sigurdsson, Chao He, Griffith J Gilbert, Evan Mauceli, Jorg Hager, Mark D'Ascenzo, Benjamin T. Kile, Lucy B. Rowe, Ivo Glynne Gut, Scott W. Lowe, Timothy C. Cox, Michael L. Cunningham, Thomas J. Albert, Monica J. Justice
المصدر: Genome Biology
مصطلحات موضوعية: Genotype, Mutant, DNA Mutational Analysis, Method, Genomics, Mice, Inbred Strains, Biology, medicine.disease_cause, 03 medical and health sciences, Mice, 0302 clinical medicine, Inbred strain, Gene Frequency, INDEL Mutation, medicine, Animals, Exome, Collagen Type II, Exome sequencing, 030304 developmental biology, Genetics, 0303 health sciences, Mutation, Chromosome Mapping, Exons, MAP Kinase Kinase Kinases, Chromosomes, Mammalian, Human genetics, 3. Good health, Phenotype, Indicators and Reagents, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf59758f9e5a1cd5e4bf67047a7e8b79Test
https://pubmed.ncbi.nlm.nih.gov/21917142Test -
8Identification and quantification of differentially methylated loci by the pyrosequencing technology
المؤلفون: Emelyne, Dejeux, Hafida, El abdalaoui, Ivo Glynne, Gut, Jörg, Tost
المصدر: Methods in molecular biology (Clifton, N.J.). 507
مصطلحات موضوعية: Carcinoma, Hepatocellular, Genes, p16, Liver Neoplasms, Humans, CpG Islands, DNA, DNA, Neoplasm, Genomics, Sequence Analysis, DNA, DNA Methylation, Nucleic Acid Amplification Techniques, Polymerase Chain Reaction, DNA Primers
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::dd4c5c18a5d608436aa34b13242dd624Test
https://pubmed.ncbi.nlm.nih.gov/18987816Test -
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المؤلفون: Jörg, Tost, Ivo Glynne, Gut
المصدر: Methods in molecular biology (Clifton, N.J.). 373
مصطلحات موضوعية: HLA-G Antigens, Base Sequence, Genome, Human, Histocompatibility Antigens Class I, Molecular Sequence Data, DNA, Exons, Sequence Analysis, DNA, Templates, Genetic, DNA Methylation, Polymerase Chain Reaction, Diphosphates, HLA Antigens, Humans, Sulfites
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::28b2419c165372a5fe69b9644281d8a6Test
https://pubmed.ncbi.nlm.nih.gov/17185760Test -
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المؤلفون: Ivo Glynne Gut, Ramon Kucharzak
المصدر: Immunogenomics and Human Disease
مصطلحات موضوعية: Genetics, DNA profiling, Expression quantitative trait loci, Biology, Molecular Inversion Probe, Disease gene identification, Genotyping, Pharmacogenetics, SNP genotyping
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9ee02cae3c0dd0e33b5dd1c04ba0fd29Test
https://doi.org/10.1002/0470034092.ch1Test