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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: Hana Ošlejšková, Michael Zech, Robert Jech, Marek Baláž, Zdenka Bálintová, Pavlína Danhofer
المصدر: Mov Disord Clin Pract
Mov. Disord. Clin. Pract. 8, 153-155 (2021)مصطلحات موضوعية: Dystonia, 0303 health sciences, medicine.medical_specialty, Deep brain stimulation, business.industry, medicine.medical_treatment, 030305 genetics & heredity, Bioinformatics, medicine.disease, GNAO1, Letters: Genotype and Phenotype, Dystonia, Biballism, Epilepsy, Neurosurgery, Next-generation Sequencing, 03 medical and health sciences, Epilepsy, Pediatric patient, 0302 clinical medicine, Neurology, Mutation (genetic algorithm), medicine, Neurology (clinical), Neurosurgery, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ab207c97edb68f75e10b97fb85d65e4Test
https://doi.org/10.1002/mdc3.13118Test -
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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: Priyanka Sharma, Arne Michael Taxt, Punit Kaur, Kolin Paul, Harpreet Singh, Arti Kapil, Rafi Ahmad, Stephan A. Frye, Ekaterina Avershina, Umaer Naseer
المصدر: Computational and Structural Biotechnology Journal
Computational and Structural Biotechnology Journal, Vol 19, Iss, Pp 1896-1906 (2021)مصطلحات موضوعية: Klebsiella pneumoniae, Antibiotic resistance, Biochemistry, Genome, K. pneumoniae, Maskinlæring, 0302 clinical medicine, VDP::Matematikk og naturvitenskap: 400::Basale biofag: 470::Genetikk og genomikk: 474, Structural Biology, Ampicillin, Maskinlæring / Machine learning, 0303 health sciences, Artificial neural network, biology, Carbapenemases, VDP::Mathematics and natural scienses: 400::Basic biosciences: 470::Bioinformatics: 475, Phenotype, Artificial Neural Networks / Artificial Neural Networks, Computer Science Applications, 030220 oncology & carcinogenesis, VDP::Midical sciences: 700::Basic medical, dental and veterinary sciences: 710::Medical microbiology: 715, Neural networks, Biotechnology, medicine.drug, Research Article, Biophysics, Antibiotic susceptibility testing, Computational biology, 03 medical and health sciences, VDP::Genetikk og genomikk: 474, VDP::Genetics and genomics: 474, Machine learning, Genetics, medicine, Artificial Neural Networks, 030304 developmental biology, ComputingMethodologies_COMPUTERGRAPHICS, Colistin, E. coli, Genotype to phenotype, Rapid diagnostics, biology.organism_classification, VDP::Mathematics and natural scienses: 400::Basic biosciences: 470::Genetics and genomics: 474, VDP::Matematikk og naturvitenskap: 400::Basale biofag: 470::Bioinformatikk: 475, Resistome, VDP::Medisinske fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710::Medisinsk mikrobiologi : 715, Minion, Bacterial infection, TP248.13-248.65, Extended spectrum β-lactamases
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0936ea3dccf17b53ce39e28557702e14Test
https://hdl.handle.net/10037/21609Test -
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المصدر: Frontiers in Molecular Neuroscience, Vol 14 (2021)
Frontiers in Molecular Neuroscienceمصطلحات موضوعية: TAO kinase, 0301 basic medicine, de novo mutations, Review, Neuropathology, Biology, lcsh:RC321-571, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Basic research, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, Molecular Biology, therapy, Kinase, Kinase Family, neurodevelopmental disorders, Genetic variants, Genetic data, cytoskeleton, neuron, Review article, 030104 developmental biology, Genotype to phenotype, Neuroscience, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::431529ed0644ed458af2ee3319852071Test
https://doi.org/10.3389/fnmol.2021.655037Test -
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المؤلفون: Fang Li, Huifang Chen, Yefei Wang, Jie Yang, Yixiong Zhou, Xin Song, Jiayan Fan
المصدر: Frontiers in Genetics
Frontiers in Genetics, Vol 12 (2021)مصطلحات موضوعية: 0301 basic medicine, FOXL2, lcsh:QH426-470, Biology, genotype and phenotype, 03 medical and health sciences, 0302 clinical medicine, Genotype-phenotype distinction, Ptosis, Genotype, medicine, Genetics, Missense mutation, Genetics (clinical), Original Research, 030219 obstetrics & reproductive medicine, POI, Genetic disorder, Autosomal dominant trait, medicine.disease, Blepharophimosis, Phenotype, lcsh:Genetics, 030104 developmental biology, BPES, Molecular Medicine, forkhead domain, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c46ce0f62085846aa407bbbf1e269fe8Test
http://europepmc.org/articles/PMC8007913Test -
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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