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1Academic Journal
المؤلفون: D. G. A. Kasteleijn Nolst Trenité, L. Volkers, E. Strengman, H. M. Schippers, W. Perquin, G. Jan de Haan, A. O. Gkountidi, R. van’t Slot, S. F. de Graaf, B. Jocic Jakubi, G. Capovilla, A. Covanis, PARISI, Pasquale, P. Veggiotti, BRINCIOTTI, Mario, G. Incorpora, M. Piccioli, L. Cantonetti, S. F. Berkovic, I. E. Scheffer, E. H. Brilstra, A. C. M. Sonsma, A. J. Bader, C. G. F. de Kovel, B. P. C. Koeleman
المساهمون: D. G. A., Kasteleijn Nolst Trenité, L., Volker, E., Strengman, H. M., Schipper, W., Perquin, G., Jan de Haan, A. O., Gkountidi, R., van’t Slot, S. F., de Graaf, B., Jocic Jakubi, G., Capovilla, A., Covani, Parisi, Pasquale, P., Veggiotti, Brinciotti, Mario, G., Incorpora, M., Piccioli, L., Cantonetti, S. F., Berkovic, I. E., Scheffer, E. H., Brilstra, A. C. M., Sonsma, A. J., Bader, C. G. F., de Kovel, B. P. C., Koeleman
مصطلحات موضوعية: epilepsy, SCNM1 mutation, orofacial myoclonu, PPR, photosensitivity
وصف الملف: STAMPA
Relation: info:eu-repo/semantics/altIdentifier/pmid/26076849; info:eu-repo/semantics/altIdentifier/wos/WOS:000357767800014; volume:29; firstpage:90; lastpage:96; numberofpages:7; journal:SEIZURE; http://hdl.handle.net/11573/780033; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930995127; http://www.seizure-journal.com/
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2
المؤلفون: Donatella Barisani, Chris J. J. Mulder, Graham A. Heap, M.L. Mearin, Jihane Romanos, Cisca Wijmenga, Fiona M. Stevens, Gosia Trynka, Marcel Bruinenberg, David S Sanders, Graham Turner, Peter D. Howdle, Valerie Trimble, D A van Heel, Lude Franke, Wieke H. M. Verbeek, Dermot Kelleher, Alexandra Zhernakova, C. G. F. de Kovel, Karen A. Hunt, Geoffrey Holmes, Ross McManus, Julian R.F. Walters, Anthony W. Ryan, Maria Teresa Bardella, Mathieu Platteel
المساهمون: University of Groningen, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Stem Cell Aging Leukemia and Lymphoma (SALL), Gastroenterology and hepatology, Other Research, Trynka, G, Zhernakova, A, Romanos, J, Franke, L, Hunt, K, Turner, G, Bruinenberg, M, Heap, G, Platteel, M, Ryan, A, de Kovel, C, Holmes, G, Howdle, P, Walters, J, Sanders, D, Mulder, C, Mearin, M, Verbeek, W, Trimble, V, Stevens, F, Kelleher, D, Barisani, D, Bardella, M, Mcmanus, R, van Heel, D, Wijmenga, C
المصدر: Gut, 58(8), 1078-1083. BMJ PUBLISHING GROUP
Gut, 58(8), 1078-1083. BMJ Publishing Group
Trynka, G, Zhernakova, A, Romanos, J, Franke, L, Hunt, K A, Turner, G A, Bruinenberg, M, Heap, G A, Platteel, M, Ryan, A, de Kovel, C, Holmes, G K, Howdle, P D, Walters, J R, Sanders, D S, Mulder, C J J, Mearin, M L, Verbeek, W H M, Trimble, V, Stevens, F M, Kelleher, D, Barisani, D, Bardella, M T, McManus, R, van Heel, D A & Wijmenga, C 2009, ' Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling ', Gut, vol. 58, no. 8, pp. 1078-1083 . https://doi.org/10.1136/gut.2008.169052مصطلحات موضوعية: Male, Linkage disequilibrium, Genotype, Genome-wide association study, Single-nucleotide polymorphism, Human leukocyte antigen, Biology, Polymorphism, Single Nucleotide, TNFAIP3, Linkage Disequilibrium, Coeliac disease, 6Q23, REGION, INFLAMMATION, medicine, Humans, IMMUNE-RESPONSE, Genetic Predisposition to Disease, Risk factor, GENOME-WIDE ASSOCIATION, SYSTEMIC-LUPUS-ERYTHEMATOSUS, Tumor Necrosis Factor alpha-Induced Protein 3, GENE-EXPRESSION, BIO/13 - BIOLOGIA APPLICATA, Intracellular Signaling Peptides and Proteins, NF-kappa B, Gastroenterology, Case-control study, Nuclear Proteins, celiac disease, NFkB, medicine.disease, RHEUMATOID-ARTHRITIS, DNA-Binding Proteins, Celiac Disease, A20, Case-Control Studies, Immunology, Female, Genes, rel, Signal Transduction
وصف الملف: application/pdf
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3Academic Journal
المؤلفون: Epicure Consortium, C. Leu, C. G. F. De Kovel, F. Zara, P. Striano, M. Pezzella, A. Robbiano, A. Bianchi, F. Bisulli, A. Coppola, F. Beccaria, D. K. N. Trenite, D. Lindhout, V. Gaus, B. Schmitz, D. Janz, Y. G. Weber, F. Becker, H. Lerche, A. A. Kleefuss Lie, K. Hallman, W. S. Kunz, C. E. Elger, H. Muhle, U. Stephani, R. S. Møller, H. Hjalgrim, S. Mullen, I. E. Scheffer, S. F. Berkovic, K. V. Everett, M. R. Gardiner, C. Marini, R. Guerrini, A. E. Lehesjoki, A. Siren, R. Nabbout, S. Baulac, E. Leguern, J. M. Serratosa, F. Rosenow, M. Feucht, I. Unterberger, A. Covanis, A. Suls, S. Weckhuysen, R. Kaneva, H. Caglayan, D. Turkdogan, B. Baykan, N. Bebek, U. Ozbek, A. Hempelmann, H. Schulz, F. Ruschendorf, H. Trucks, P. Nurnberg, G. Avanzini, B. P. C. Koeleman, T. Sander, GIALLONARDO, Anna Teresa
المساهمون: Epicure, Consortium, C., Leu, C. G. F., De Kovel, F., Zara, P., Striano, M., Pezzella, A., Robbiano, A., Bianchi, F., Bisulli, A., Coppola, Giallonardo, Anna Teresa, F., Beccaria, D. K. N., Trenite, D., Lindhout, V., Gau, B., Schmitz, D., Janz, Y. G., Weber, F., Becker, H., Lerche, A. A., Kleefuss Lie, K., Hallman, W. S., Kunz, C. E., Elger, H., Muhle, U., Stephani, R. S., Møller, H., Hjalgrim, S., Mullen, I. E., Scheffer, S. F., Berkovic, K. V., Everett, M. R., Gardiner, C., Marini, R., Guerrini, A. E., Lehesjoki, A., Siren, R., Nabbout, S., Baulac, E., Leguern, J. M., Serratosa, F., Rosenow, M., Feucht, I., Unterberger, A., Covani, A., Sul, S., Weckhuysen, R., Kaneva, H., Caglayan, D., Turkdogan, B., Baykan, N., Bebek, U., Ozbek, A., Hempelmann, H., Schulz, F., Ruschendorf, H., Truck, P., Nurnberg, G., Avanzini, B. P. C., Koeleman, T., Sander
مصطلحات موضوعية: absence seizure, linkage analysi, genetic generalized epilepsy, myoclonic seizure, complex inheritance
وصف الملف: ELETTRONICO
Relation: info:eu-repo/semantics/altIdentifier/pmid/22242659; info:eu-repo/semantics/altIdentifier/wos/WOS:000299546100017; volume:53; issue:2; firstpage:308; lastpage:318; numberofpages:11; journal:EPILEPSIA; http://hdl.handle.net/11573/442818; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84856357672
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4Selection on apomictic lineages of Taraxacum at establishment in a mixed sexual-apomictic population
المؤلفون: C. G. F. de Kovel, G. de Jong
المصدر: Journal of Evolutionary Biology. 13:561-568
مصطلحات موضوعية: Mode of reproduction, education.field_of_study, fungi, Population, food and beverages, Biology, Asexuality, Apomixis, Genotype, Botany, Evolutionary ecology, Ploidy, education, reproductive and urinary physiology, Ecology, Evolution, Behavior and Systematics, Selection (genetic algorithm)
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5
المصدر: Plant Ecology. 149:43-50
مصطلحات موضوعية: Ecology, biology, Soil organic matter, Corynephorus canescens, Plant Science, Ecological succession, biology.organism_classification, Deschampsia flexuosa, medicine, Environmental science, Ecosystem, medicine.symptom, Empetrum nigrum, Vegetation (pathology), Primary succession
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6
المؤلفون: Bart Fransen, F. Van Den Bosch, H. De Kroon, C. G. F. de Kovel
المصدر: Annals of Botany, 84(3), 305-311
Annals of Botany 84 (1999) 3مصطلحات موضوعية: Patchiness, Plasticity, media_common.quotation_subject, Foraging, Plant Ecology and Nature Conservation, Plant Science, Biology, Competition (biology), Resource Acquisition Is Initialization, Growth rate, media_common, Plant growth, Biomass (ecology), WIMEK, Ecology, Environmental heterogeneity, Root foraging, Root placement, Agronomy, Homogeneous, Nitrogen utilization, Plantenecologie en Natuurbeheer, Limited resources, Nitrogen uptake, Model
وصف الملف: application/octet-stream; application/pdf
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7
المؤلفون: Jacques C. Giltay, C. M L Volker-Touw, M.A.M. van Steensel, Joost Frenkel, H. D. de Koning, Joost Schalkwijk, M. E. van Gijn, Willeke A. M. Blokx, K. M E J Oberndorff, Anna Simon, Marianne Boes, C. G. F. de Kovel, T. S. van Kempen, G. T. J. van Well
المساهمون: Promovendi CD, RS: GROW - R3 - Innovative Cancer Diagnostics & Therapy, Kindergeneeskunde, MUMC+: MA Medische Staf Kindergeneeskunde (9), MUMC+: MA Arts Assistenten Kindergeneeskunde (9), RS: NUTRIM - R1 - Obesity, diabetes and cardiovascular health, RS: NUTRIM - R1 - Metabolic Syndrome, Carim
المصدر: British Journal of Dermatology, 176(1), 244-248. Wiley
British Journal of Dermatology, 176, 1, pp. 244-248
British Journal of Dermatology, 176, 244-248مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Letter, Urticaria, Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2], Hereditary Autoinflammatory Diseases, Dermatology, 03 medical and health sciences, NLRC4 CAUSES, 0302 clinical medicine, Cytokines metabolism, NLRC4, Humans, Medicine, Autoinflammatory disease, Age of Onset, MUTATION, Aged, Aged, 80 and over, 030203 arthritis & rheumatology, Anakinra, Enterocolitis, business.industry, INFLAMMASOMES, Calcium-Binding Proteins, Exanthema, Middle Aged, Arthralgia, Phenotype, Pedigree, CARD Signaling Adaptor Proteins, Interleukin 1 Receptor Antagonist Protein, 030104 developmental biology, Erythema, Urticarial rash, Immunology, Inflammatory diseases Radboud Institute for Health Sciences [Radboudumc 5], Cytokines, Female, business, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], medicine.drug
وصف الملف: image/pdf; application/pdf
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8
المؤلفون: Willem F. M. Arts, Dick Lindhout, P. De Jonghe, Katia Hardies, J. F. de Rijk-van Andel, Eva H. Brilstra, András Fogarasi, J. J. T. van Harssel, M. V. de Jonge, Anna Jansen, W. B. Gunning, Arvid Suls, Nienke E. Verbeek, M.J.A. van Kempen, E. van Daalen, Helene Verhelst, R. Vermeulen, Sarah Weckhuysen, Anna Kelemen, C. G. F. de Kovel, Bobby P. C. Koeleman
المساهمون: Public Health Care, Neurogenetics, Child and Adolescent Psychiatry / Psychology, Internal Medicine, Public Health, Neurology, Clinical Genetics, Pediatric surgery, NCA - Brain mechanisms in health and disease
المصدر: van Harssel, J J T, Weckhuysen, S, van Kempen, M J A, Hardies, K, Verbeek, N E, de Kovel, C G F, Gunning, W B, van Daalen, E, de Jonge, M V, Jansen, A C, Vermeulen, R J, Arts, W F M, Verhelst, H, Fogarasi, A, de Rijk-van Andel, J, Kelemen, A, Lindhout, D, De Jonghe, P, Koeleman, B P C, Suls, A & Brilstra, E H 2013, ' Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders ', Neurogenetics, vol. 14, no. 1, pp. 23-34 . https://doi.org/10.1007/s10048-013-0353-1
Vrije Universiteit Brussel
Neurogenetics, 14(1), 23-34. Springer-Verlag
Neurogenetics
Neurogenetics, 14(1), 23-34. Springer Verlagمصطلحات موضوعية: Proband, Male, Pediatrics, medicine.medical_specialty, Adolescent, Epilepsies, Myoclonic, Penetrance, Cohort Studies, Cellular and Molecular Neuroscience, Epilepsy, Dravet syndrome, Intellectual Disability, medicine, Missense mutation, Humans, genetics, Genetic Predisposition to Disease, Autism spectrum disorder, Child, Biology, Genetics (clinical), Genetic Association Studies, Genetics, X-linked, Sex Characteristics, business.industry, Syndrome, medicine.disease, Cadherins, Protocadherins, Child Development Disorders, Pervasive, Child, Preschool, Epilepsy syndromes, Mutation, Autism, Female, Human medicine, business
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9
المؤلفون: Auli Siren, Hiltrud Muhle, Gabrielle Rudolf, D. G Kasteleijn Nolst Trenité, Costin Leu, Ingrid E. Scheffer, Dalila Pinto, Pasquale Striano, C. G. F. de Kovel, Petra M.C. Callenbach, Thomas Sander, Bobby P. C. Koeleman, Ulrich Stephani, Dick Lindhout, S. Lorenz, Anne Hempelmann, Samuel F. Berkovic, Betül Baykan, Ulrike Tauer, Bernd A. Neubauer
المصدر: EPILEPSY RESEARCH, 89(2-3), 286-294. ELSEVIER SCIENCE BV
مصطلحات موضوعية: Male, Genetic Linkage, LOCI, Genome, Photoparoxysmal response, Epilepsy, 0302 clinical medicine, Idiopathic generalised epilepsy, Photosensitivity, genetics, Genetics, Genome-wide linkage, 0303 health sciences, Chromosome Mapping, Phenotype, GENETIC DISSECTION, Neurology, TWINS, Geographic origin, Chromosomes, Human, Pair 5, Pair 8, Female, Mega analysis, Pair 5, Chromosomes, Human, Pair 8, Human, Mega-analysis, Locus (genetics), Biology, IDIOPATHIC GENERALIZED EPILEPSIES, Epilepsy, Reflex, Chromosomes, 7Q32, methods, 03 medical and health sciences, Genetic linkage, Reflex, medicine, Humans, methods, Chromosomes, Pair 16, genetics, Chromosomes, genetics, Epilepsy, genetics, Female, Genetic Linkage, genetics, Genetic Predisposition to Disease, Genome, genetics, Humans, Male, Genetic Predisposition to Disease, 030304 developmental biology, Genome, Human, medicine.disease, SEIZURES, Neurology (clinical), Chromosomes, Human, Pair 16, 030217 neurology & neurosurgery, 16P13
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10
المؤلفون: Ynte M. Ruigrok, R. van 't Slot, Robert H. Geelkerken, C. G. F. de Kovel, Alexandra Zhernakova, Diederik E. Grobbee, S M van Sterkenburg, J D Blankensteijn, Annette F. Baas, Steef Kranendonk, Jelena Medic, Cisca Wijmenga, A.P.M. Boll
المساهمون: Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Surgery, ICaR - Ischemia and repair
المصدر: European Journal of Human Genetics, 18(2), 240-244. Nature Publishing Group
Baas, A F, Medic, J, van't Slot, R, de Kovel, C G, Zhernakova, A, Geelkerken, R H, Kranendonk, S E, van Sterkenburg, S M, Grobbee, D E, Boll, A P, Wijmenga, C, Blankensteijn, J D & Ruigrok, Y M 2010, ' Association of the TGF-beta receptor genes with abdominal aortic aneurysm ', European Journal of Human Genetics, vol. 18, no. 2, pp. 240-244 . https://doi.org/10.1038/ejhg.2009.141مصطلحات موضوعية: Marfan syndrome, Male, FEATURES, Receptor, Transforming Growth Factor-beta Type I, SUSCEPTIBILITY, Gastroenterology, Aortic aneurysm, Gene Frequency, RECENT PROGRESS, Genetics (clinical), Netherlands, Genetics, Aged, 80 and over, TGFBR1, education.field_of_study, MATRIX-METALLOPROTEINASE-9 GENE, Middle Aged, Abdominal aortic aneurysm, transforming growth factor-beta pathway, MARFAN-SYNDROME, TGFBR2, cardiovascular system, Female, medicine.medical_specialty, vascular remodeling, Population, Single-nucleotide polymorphism, Biology, Protein Serine-Threonine Kinases, association study, Thoracic aortic aneurysm, Polymorphism, Single Nucleotide, White People, Article, DISSECTIONS, abdominal aortic aneurysm, Internal medicine, medicine, Humans, INTRACRANIAL ANEURYSM, cardiovascular diseases, education, Genotyping, Allele frequency, POLYMORPHISMS, Aged, MUTATIONS, Receptor, Transforming Growth Factor-beta Type II, medicine.disease, OVEREXPRESSION, Receptors, Transforming Growth Factor beta, Aortic Aneurysm, Abdominal
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11
المؤلفون: T van Kempen, Marianne Boes, J Frenkel, K. M E J Oberndorff, Jacques C. Giltay, M.A.M. van Steensel, M van Gijn, Anna Simon, H. D. de Koning, C. G. F. de Kovel, N Volker-Touw
المصدر: Pediatric Rheumatology Online Journal
مصطلحات موضوعية: medicine.medical_specialty, Anakinra, business.industry, Genetic heterogeneity, Disease, Bioinformatics, Systemic inflammation, Rheumatology, NLRC4, Internal medicine, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Poster Presentation, medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, medicine.symptom, business, Exome sequencing, medicine.drug
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12
المؤلفون: C. G. F. de Kovel, Carel B. Hoyng, J G A M Heister, F.P.M. Cremers, August F. Deutman, A.I. den Hollander, Ferry F.J. Kersten, J. J. C. van Lith-Verhoeven
المصدر: Journal of Medical Genetics, 41, 9, pp. 699-702
Journal of Medical Genetics, 41, 699-702مصطلحات موضوعية: Male, medicine.medical_specialty, Visual acuity, genetic structures, Adolescent, Genetic Linkage, Biology, Lipofuscin, chemistry.chemical_compound, Macular Degeneration, Ophthalmology, Genetics, medicine, Neurosensory disorders [UMCN 3.3], Humans, Genetics (clinical), Genes, Dominant, Netherlands, Retinal pigment epithelium, Dystrophy, Peripherin, Retinal, Anatomy, Macular degeneration, Macular dystrophy, medicine.disease, eye diseases, Pedigree, medicine.anatomical_structure, Phenotype, chemistry, Haplotypes, Chromosomes, Human, Pair 5, Female, sense organs, medicine.symptom, Letter to JMG
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13
المؤلفون: L.A. Sandkuijl, George W. Padberg, Barbara Franke, J.J.H.T. Willemen, J.G.A.M. Heister, Frans A. Hol, C. G. F. de Kovel
المصدر: Journal of Medical Genetics, 41, 9, pp. 652-7
Journal of Medical Genetics, 41, 652-7مصطلحات موضوعية: Adult, Male, Adolescent, DNA Mutational Analysis, Quantitative Trait Loci, Locus (genetics), Biology, behavioral disciplines and activities, Dyslexia, Cognitive neurosciences [UMCN 3.2], Gene mapping, Genetic linkage, Surveys and Questionnaires, mental disorders, Determinants in Health and Disease [EBP 1], Genetics, medicine, Humans, Neurosensory disorders [UMCN 3.3], Genetic Predisposition to Disease, Allele, First-degree relatives, Sibling, Alleles, Genetics (clinical), Aged, Genes, Dominant, Netherlands, Chromosomes, Human, X, Sex Characteristics, Genome, Human, Siblings, Genetic Diseases, X-Linked, Middle Aged, medicine.disease, Penetrance, nervous system diseases, Pedigree, Reading, Original Article, Female, Lod Score
وصف الملف: application/pdf
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14
المؤلفون: P M Thompson, N Jahanshad, C R K Ching, L E Salminen, S I Thomopoulos, J Bright, B T Baune, S Bertolín, J Bralten, W B Bruin, R Bülow, J Chen, Y Chye, U Dannlowski, C G F de Kovel, G Donohoe, L T Eyler, S V Faraone, P Favre, C A Filippi, T Frodl, D Garijo, Y Gil, H J Grabe, K L Grasby, T Hajek, L K M Han, S N Hatton, K Hilbert, T C Ho, L Holleran, G Homuth, N Hosten, J Houenou, I Ivanov, T Jia, S Kelly, M Klein, J S Kwon, M A Laansma, J Leerssen, U Lueken, A Nunes, J O Neill, N Opel, F Piras, M C Postema, E Pozzi, N Shatokhina, C Soriano-Mas
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15Academic JournalSelection on apomictic lineages of Taraxacum at establishment in a mixed sexual–apomictic population
المؤلفون: C. G. F. De Kovel, G. De Jong
المساهمون: The Pennsylvania State University CiteSeerX Archives
المصدر: http://www.bio.uu.nl/evolpopbio/personeel/gerdiendejong/pdfs/de Kovel %26 de Jong JEB 13 2000 561-568.pdf.
وصف الملف: application/pdf
Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.454.4606; http://www.bio.uu.nl/evolpopbio/personeel/gerdiendejong/pdfs/de Kovel %26 de Jong JEB 13 2000 561-568.pdf
الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.454.4606
http://www.bio.uu.nl/evolpopbio/personeel/gerdiendejong/pdfs/de Kovel %26 de Jong JEB 13 2000 561-568.pdf -
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المؤلفون: T.W.J. Huizinga, Alexandra Zhernakova, R.E.M. Toes, Kristina Forslind, D. P. C. de Rooy, M. Andersson, C. G. F. de Kovel, A.H.M. van der Helm-van Mil, R. Tsonaka, Björn Svensson, Jeanine J Houwing-Duistermaat, B. P. C. Koeleman, D. van der Heijde
المصدر: Annals of the Rheumatic Diseases. 72:A55.1-A55
مصطلحات موضوعية: musculoskeletal diseases, medicine.medical_specialty, business.industry, Immunology, Early disease, Single-nucleotide polymorphism, organization, medicine.disease, Genome, General Biochemistry, Genetics and Molecular Biology, Arthritis foundation, Surgery, Minor allele frequency, symbols.namesake, Bonferroni correction, Rheumatology, organization.non_profit_organization, Internal medicine, Rheumatoid arthritis, symbols, Immunology and Allergy, Medicine, business, Genotyping