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المؤلفون: Emine Kartal Baykan, Ceren Alavanda, Erdal Kurnaz, Pinar Ata, Oguzhan Yarali, Ayberk Turkyilmaz, Atilla Cayir, Dilek Gogas Yavuz
المصدر: Metabolic Syndrome and Related Disorders. 19:340-346
مصطلحات موضوعية: Adult, medicine.medical_specialty, Turkey, Endocrinology, Diabetes and Metabolism, Familial hypercholesterolemia, Cohort Studies, Hyperlipoproteinemia Type II, symbols.namesake, Internal medicine, Internal Medicine, Humans, Medicine, Child, Lipoprotein cholesterol, Heterogeneous group, business.industry, medicine.disease, Endocrinology, Receptors, LDL, Mutation, Cohort, LDL receptor, Mendelian inheritance, symbols, lipids (amino acids, peptides, and proteins), Genotype to phenotype, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::917e09b90c2cae45765ca6925d4185d8Test
https://doi.org/10.1089/met.2021.0004Test -
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المؤلفون: Ruta Navardauskaite, Kristina Semeniene, Marius Sukys, Agne Pridotkaite, Aurika Vanckaviciene, Birute Zilaitiene, Rasa Verkauskiene
المصدر: Medicina; Volume 58; Issue 4; Pages: 500
مصطلحات موضوعية: Adult, Male, Adolescent, Adrenal Hyperplasia, Congenital, Hydrocortisone, CAH, congenital adrenal hyperplasia, cardiometabolic, insulin resistance, genotype and phenotype correlation, nutritional and metabolic diseases, General Medicine, Body Mass Index, Young Adult, Cholesterol, Cardiovascular Diseases, Humans, Female, Insulin Resistance
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8af8f3ec6cad591e6fb1c371c29e3633Test
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المؤلفون: Qiang Li, Jia Wang, Huang-Tian Yang, Nan Cao, Qiang Wu
المصدر: Stem Cells Translational Medicine, Vol 9, Iss 10, Pp 1121-1128 (2020)
Stem Cells Translational Medicineمصطلحات موضوعية: 0301 basic medicine, Heart Diseases, Heart disease, cardiac, Cell Culture Techniques, tissue regeneration, Disease, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Cell transplantation, CARDIAC THERAPY, medicine, Humans, Regeneration, Myocytes, Cardiac, lcsh:QH573-671, Induced pluripotent stem cell, cell transplantation, Embryonic Stem Cells, lcsh:R5-920, business.industry, lcsh:Cytology, Cell Differentiation, Cell Biology, General Medicine, differentiation, medicine.disease, 030104 developmental biology, embryonic stem cells (ESCs), induced pluripotent stem cells (iPSCs), Genotype to phenotype, pluripotent stem cells, business, lcsh:Medicine (General), 030217 neurology & neurosurgery, Perspectives, Developmental Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fa069eb6b843c90eca8080c71ee5c33Test
https://doaj.org/article/399f16533570466b9a088a0a4c52816cTest -
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المؤلفون: Klaus Pantel, Shana O. Kelley
المصدر: Clinical Chemistry. 66:89-96
مصطلحات موضوعية: 0301 basic medicine, Genotype, Proteome, Clinical Biochemistry, Computational biology, Biology, 03 medical and health sciences, 0302 clinical medicine, Circulating tumor cell, Neoplasms, Humans, Liquid biopsy, Gene Expression Profiling, Biochemistry (medical), Liquid Biopsy, Neoplastic Cells, Circulating, Phenotype, Gene expression profiling, 030104 developmental biology, 030220 oncology & carcinogenesis, Cancer management, Molecular Profile, Genotype to phenotype, Cell Adhesion Molecules, Cell-Free Nucleic Acids
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93c9d8c20b24f6dbeec0f74e1629f404Test
https://doi.org/10.1373/clinchem.2019.303339Test -
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المؤلفون: Abraham A. Palmer, Binnaz Yalcin, Oliver Stegle, Jérôme Nicod, Amanda M. Barkley-Levenson, Charlotte Montillot, Francesco Paolo Casale, Amelie Baud, Nilgoun Farhadi
المساهمون: European Bioinformatics Institute [Hinxton] (EMBL-EBI), EMBL Heidelberg, University of California [San Diego] (UC San Diego), University of California (UC), Microsoft Research New England [Cambridge, MA, USA] (MRNE), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro), University of Oxford, Genome Biology Unit [Heidelberg, Germany], European Molecular Biology Laboratory [Hinxton], German Cancer Research Center - Deutsches Krebsforschungszentrum [Heidelberg] (DKFZ), The Wellcome Trust Sanger Institute [Cambridge], Dupuis, Christine
المصدر: Genome Biology
Genome Biology, 2021, 22 (1), pp.216. ⟨10.1186/s13059-021-02415-x⟩
Genome Biology, Vol 22, Iss 1, Pp 1-21 (2021)مصطلحات موضوعية: 0301 basic medicine, Male, Genome-wide association study, Multifactorial Inheritance, Genotype, QH301-705.5, [SDV]Life Sciences [q-bio], Quantitative Trait Loci, Datasets as Topic, Gene Expression, Context (language use), QH426-470, Immunoglobulin E, Polymorphism, Single Nucleotide, 03 medical and health sciences, Social genetic effects, Genetic Heterogeneity, Mice, 0302 clinical medicine, Stress, Physiological, Genetics, Animals, Humans, Genotip, Biology (General), Genetic association, Wound Healing, biology, Genetic heterogeneity, Research, Receptor, EphA4, Genotype to phenotype, Phenotype, Human genetics, Fenotip, [SDV] Life Sciences [q-bio], Genòmica, 030104 developmental biology, Indirect genetic effects, Peer effects, biology.protein, Female, Gene-Environment Interaction, 030217 neurology & neurosurgery, Genètica
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67028a6fa2cbd12f650d837a2b4419b9Test
http://europepmc.org/articles/PMC8311926Test -
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المؤلفون: Daniela Ricci, Filippo Amore, Marco Tartaglia, Eugenio Mercuri, Annabella Salerni, Daniela Chieffo, Giuseppe Zampino, Lorenzo Orazi, Chiara Leoni, Simona Leone, Cristiana Agazzi, Roberta Onesimo, Maria Petrianni
المصدر: Genes
Genes, Vol 12, Iss 972, p 972 (2021)
Volume 12
Issue 7مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, genetic structures, Disease, QH426-470, Correlation, CHD7, Cohort Studies, CHARGE syndrome, 0302 clinical medicine, genotype–ocular-phenotype, Prospective Studies, Child, Genetics (clinical), media_common, Coloboma, VISIOCHARGE, rare diseases, DNA-Binding Proteins, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Female, Cohort study, Adult, medicine.medical_specialty, Adolescent, Genotype, media_common.quotation_subject, Nonsense, Affect (psychology), Article, Frameshift mutation, 03 medical and health sciences, Young Adult, medicine, Genetics, visual function, Humans, Genetic Predisposition to Disease, Genetic Association Studies, business.industry, DNA Helicases, medicine.disease, eye diseases, Ophthalmology, 030104 developmental biology, Mutation, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ce16ee769ac3f67f364c41949448dd6Test
http://europepmc.org/articles/PMC8303791Test -
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المؤلفون: Rebecca Yee, Patricia J. Simner, Jennifer Dien Bard
المصدر: J Clin Microbiol
مصطلحات موضوعية: 0301 basic medicine, Microbiology (medical), Genetics, Genotype, 030106 microbiology, Microbial Sensitivity Tests, Biology, Phenotype, Anti-Bacterial Agents, 03 medical and health sciences, Clinical microbiology, 0302 clinical medicine, Antibiotic resistance, Drug Resistance, Bacterial, Humans, Identification (biology), Minireview, 030212 general & internal medicine, Genotype to phenotype, Laboratories, Gene, Organism
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba0c6b9e2817a877956a71da7d4d0192Test
https://doi.org/10.1128/jcm.00138-20Test -
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المؤلفون: Sukhaswami Malladi, Harold R. Powell, Alessia David, Suhail A. Islam, Matthew M. Copeland, Petras J. Kundrotas, Michael J.E. Sternberg, Ilya A. Vakser
المساهمون: Wellcome Trust, Biotechnology and Biological Sciences Research Council (BBSRC)
المصدر: Journal of Molecular Biology. 434:167608
مصطلحات موضوعية: Biochemistry & Molecular Biology, Binding Sites, 0304 Medicinal and Biomolecular Chemistry, Computational Biology, Proteins, genotype to phenotype, 0601 Biochemistry and Cell Biology, structure prediction, protein docking, Molecular Docking Simulation, genome-wide modeling, Structural Biology, Protein Interaction Mapping, Humans, amino acid mutations, Databases, Protein, Molecular Biology, Software, Protein Binding, 0605 Microbiology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc6ef80a1a1a2c14445e201254b5fc05Test
https://doi.org/10.1016/j.jmb.2022.167608Test -
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المؤلفون: Darren G. Monckton
المصدر: Journal of Huntington's Disease
مصطلحات موضوعية: 0301 basic medicine, DNA Repair, DNA mismatch repair, Disease, Review, Biology, medicine.disease_cause, History, 21st Century, Germline, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Huntington's disease, Somatic expansion, medicine, Genetics, Animals, Humans, CAG repeat, Mutation, Mechanism (biology), Anticipation, Genetic, History, 19th Century, History, 20th Century, genotype to phenotype, medicine.disease, Human genetics, 030104 developmental biology, Huntington Disease, Anticipation (genetics), anticipation, Neurology (clinical), mutation, Trinucleotide Repeat Expansion, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a01c960813043cee777c7ad2936c25fTest
https://pubmed.ncbi.nlm.nih.gov/33579863Test -
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المؤلفون: Mario Marchand, Alexandre Drouin, Jacques Corbeil, Frédéric Raymond, Gaël Letarte, François Laviolette
المصدر: Scientific Reports, Vol 9, Iss 1, Pp 1-13 (2019)
Scientific Reportsمصطلحات موضوعية: 0301 basic medicine, Computer science, Generalization, lcsh:Medicine, Sample (statistics), Machine learning, computer.software_genre, Article, Machine Learning, 03 medical and health sciences, 0302 clinical medicine, Artificial Intelligence, Humans, Limit (mathematics), Precision Medicine, lcsh:Science, Genetic Association Studies, 030304 developmental biology, Interpretability, 0303 health sciences, Genome, Multidisciplinary, Interpretation (logic), 030306 microbiology, business.industry, lcsh:R, Genomics, 3. Good health, 030104 developmental biology, lcsh:Q, Artificial intelligence, Genotype to phenotype, business, computer, Algorithms, Software, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01fcd8eea44d09939a90b0faaf91a705Test
http://link.springer.com/article/10.1038/s41598-019-40561-2Test