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المؤلفون: Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, HHM, White, SJ, Santen, GWE, Lopes, SMCDS, Heijmans, BT, Van Meurs, J, Jansen, R, Franke, L, Kielbasa, SM, Den Dunnen, JT, 't Hoen, PAC, Boomsma, DI, Pool, R, Van Dongen, J, Hottenga, JJ, Van Greevenbroek, MMJ, Da Stehouwer, C, Van der Kallen, CJH, Schalkwijk, CG, Wijmenga, C, Zhernakova, S, Tigchelaar, EF, Slagboom, PE, Beekman, M, Deelen, J, Van Heemst, D, Veldink, JH, Van den Berg, LH, Van Duijn, CM, Hofman, BA, Uitterlinden, AG, Jhamai, PM, Verbiest, M, Suchiman, HED, Verkerk, M, Van der Breggen, R, Van Rooij, J, Lakenberg, N, Mei, H, Bot, J, Zhernakova, DV, 't Hof, PV, Deelen, P, Nooren, I, Moed, M, Vermaat, M, Luijk, R, Bonder, MJ, Van Iterson, M, Van Dijk, F, Van Galen, M, Arindrarto, W, Swertz, MA, Van Zwet, EW, Isaacs, A, Francioli, LC, Menelaou, A, Pulit, SL, Palamara, PF, Elbers, CC, Neerincx, PB, Ye, K, Guryev, V, Kloosterman, WP, Abdellaoui, A, Van Leeuwen, EM, Van Oven, M, Li, M, Laros, JF, Karssen, LC, Kanterakis, A, Amin, N, Lameijer, EW, Kattenberg, M, Dijkstra, M, Byelas, H, Van Setten, J, Van Schaik, BD, Nijman, IJ, Renkens, I, Marschall, T, Schonhuth, A, Hehir-Kwa, JY, Handsaker, RE, Polak, P, Sohail, M, Vuzman, D, Hormozdiari, F, Van Enckevort, D, Koval, V, Moed, MH, Van der Velde, KJ, Rivadeneira, F, Estrada, K, Medina-Gomez, C, McCarroll, SA, De Craen, AJ, Suchiman, HE, Oostra, B, Willemsen, G, Platteel, M, Pitts, SJ, Potluri, S, Sundar, P, Cox, DR, Sunyaev, SR, Stoneking, M, De Knijff, P, Kayser, M, Li, Q, Li, Y, Du, Y, Chen, R, Cao, H, Li, N, Cao, S, Wang, J, Bovenberg, JA, Pe'er, I, Van Ommen, GJ, De Bakker, PI
المساهمون: Consortium, Bios, Consortium, Gonl, BIOS consortium, GoNL consortium, Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI), Translational Immunology Groningen (TRIGR), Groningen Research Institute for Asthma and COPD (GRIAC), Stem Cell Aging Leukemia and Lymphoma (SALL), Epidemiology and Data Science, AII - Inflammatory diseases, APH - Methodology, Experimental Immunology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, APH - Personalized Medicine, Biological Psychology, APH - Mental Health, APH - Health Behaviors & Chronic Diseases, RS: Carim - V01 Vascular complications of diabetes and metabolic syndrome, Interne Geneeskunde, RS: CARIM - R3 - Vascular biology, MUMC+: MA Reumatologie (9), MUMC+: MA Nefrologie (9), MUMC+: MA Medische Oncologie (9), MUMC+: MA Hematologie (9), MUMC+: MA Maag Darm Lever (9), MUMC+: MA Endocrinologie (9), MUMC+: HVC Pieken Maastricht Studie (9), RS: CARIM - R3.01 - Vascular complications of diabetes and the metabolic syndrome, MUMC+: MA Interne Geneeskunde (3), RS: Carim - B01 Blood proteins & engineering, RS: FHML MaCSBio, RS: CARIM - R1 - Thrombosis and haemostasis, RS: CARIM - R1.01 - Blood proteins & engineering, Biochemie, Psychiatry, VU University medical center, Pediatric surgery, Amsterdam Reproduction & Development (AR&D), Internal Medicine, Epidemiology, Genetic Identification, Clinical Genetics
المصدر: European Journal of Human Genetics
European Journal of Human Genetics, 27(3), 455-465. Nature Publishing Group
European journal of human genetics, 27(3), 455-465. Nature Publishing Group
European Journal of Human Genetics, 27(3), 455-465
European Journal of Human Genetics, 27, 455-465
European Journal of Human Genetics, 27(3), 455. Nature Publishing Group
European Journal of Human Genetics, 27, 3, pp. 455-465
Shvetsova, E, 't Hoen, P A C, Boomsma, D I, Pool, R, van Dongen, J, Hottenga, J J, Willemsen, G & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3Test
Shvetsova, E, Sofronova, A, Monajemi, R, Gagalova, K, Draisma, H H M, White, S J, Santen, G W E, Chuva de Sousa Lopes, S M, Heijmans, B T, van Meurs, J, Jansen, R, Franke, L, Kiełbasa, S M, den Dunnen, J T, ‘t Hoen, P A C & BIOS Consortium 2019, ' Skewed X-inactivation is common in the general female population ', European Journal of Human Genetics, vol. 27, no. 3, pp. 455-465 . https://doi.org/10.1038/s41431-018-0291-3Testمصطلحات موضوعية: Netherlands Twin Register (NTR), Male, 0301 basic medicine, Receptors, Cytoplasmic and Nuclear/genetics, CHROMOSOME-INACTIVATION, BIOS consortium, Receptors, Cytoplasmic and Nuclear, Septins/genetics, Population genetics, GoNL consortium, Population/genetics, Negative selection, 0302 clinical medicine, X Chromosome Inactivation, Receptors, Non-U.S. Gov't, Genetics (clinical), Netherlands, Genetics & Heredity, Genetics, education.field_of_study, Membrane Glycoproteins, Dosage compensation, DMD LOCUS, Research Support, Non-U.S. Gov't, Receptors, Peptide/genetics, Intracellular Signaling Peptides and Proteins, Peptide/genetics, Single Nucleotide, CARRIERS, TRANSLOCATION, VARIABILITY, Female, Life Sciences & Biomedicine, EXPRESSION, Biochemistry & Molecular Biology, Receptors, Peptide, Population, ADRENOLEUKODYSTROPHY, Biology, Research Support, Polymorphism, Single Nucleotide, Article, X-inactivation, DUCHENNE MUSCULAR-DYSTROPHY, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, Journal Article, Humans, Polymorphism, Allele, education, Skewed X-inactivation, Gene, 0604 Genetics, Calcium-Binding Proteins/genetics, Science & Technology, CONSEQUENCES, Calcium-Binding Proteins, Membrane Glycoproteins/genetics, 030104 developmental biology, Cytoplasmic and Nuclear/genetics, PATTERNS, Intracellular Signaling Peptides and Proteins/genetics, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19], Septins, 030217 neurology & neurosurgery
وصف الملف: application/pdf; text/plain
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d16e7db74a66781c04e9903128640a4Test
https://doi.org/10.1038/s41431-018-0291-3Test -
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المؤلفون: Cotton, RGH, Appelbe, W, Auerbach, AD, Becker, K, Bodmer, W, Boone, DJ, Boulyjenkov, V, Brahmachari, S, Brody, L, Brookes, A, Brown, AF, Byers, P, Maria Cantu, J, Cassiman, J-J, Claustres, M, Concannon, P, Den Dunnen, JT, Flicek, P, Gibbs, R, Hall, J, Hasler, J, Katz, M, Kwok, P-Y, Laradi, S, Lindblom, A, Maglott, D, Marsh, S, Masimirembwa, CM, Minoshima, S, De Ramirez, AMO, Pagon, R, Ramesar, R, Ravine, D, Richards, S, Rimoin, D, Ring, HZ, Scriver, CR, Sherry, S, Shimizu, N, Stein, L, Tadmouri, GO, Taylor, G, Watson, M
مصطلحات موضوعية: Standardization, Informatics, Sustainability, Genetics, MEDLINE, Human Variome Project, Relevance (information retrieval), Diagnostic laboratory, Biology, Data science, Human genetics
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b6688613467e71e93a7e0e538c3a6c7Test
https://ora.ox.ac.uk/objects/uuid:ac90752b-56e0-452e-a004-ea828ca69052Test -
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المؤلفون: Den Dunnen, JT, Grootscholten, PM, Dauwerse, JG, Walker, AP, Monaco, AP, Butler, R, Anand, R, Coffey, AJ, Bentley, DR, Steensma, HY
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, fungi
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6fce0947df7ae57e7b39f3eab40b3649Test
https://ora.ox.ac.uk/objects/uuid:068205d7-c87e-428f-9a14-ce37ddb352adTest -
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المؤلفون: van der Maarel, SM, Scholten, IH, Maat-Kievit, JA, Huber, I, de Kok, YJ, de Wijs, I, van de Pol, TJ, van Bokhoven, H, den Dunnen, JT, van Ommen, GJ
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::5e3b63f52c0fb740d733857eaffd3d96Test
https://ora.ox.ac.uk/objects/uuid:98ff7105-a9b8-4cc0-a553-7f1d44581635Test -
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المؤلفون: 't Hoen PA, Friedlxe4nder MR, Almlxf6f J, Sammeth M, Pulyakhina I, Anvar SY, Laros JF, Buermans HP, Karlberg O, Brxe4nnvall M, GEUVADIS Consortium, den Dunnen JT, van Ommen GJ, Gut IG, Guigxf3 R, Estivill X, Syvxe4nen AC, Dermitzakis ET, Lappalainen T, 't Hoen PA, Friedlxe4nder MR, Almlxf6f J, Sammeth M, Pulyakhina I, Anvar SY, Laros JF, Buermans HP, Karlberg O, Brxe4nnvall M, GEUVADIS Consortium, den Dunnen JT, van Ommen GJ, Gut IG, Guigxf3 R, Estivill X, Syvxe4nen AC, Dermitzakis ET, Lappalainen T
المصدر: Nature Biotechnology.
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=erc_________::70dea3d79724cf019f72d7e47d6c3d6cTest
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المؤلفون: Van Leeuwen, EM, Karssen, LC, Deelen, J, Isaacs, A, Medina-Gomez, C, Mbarek, H, Kanterakis, A, Trompet, S, Postmus, I, Verweij, N, Van Enckevort, DJ, Huffman, JE, White, CC, Feitosa, MF, Bartz, TM, Manichaikul, A, Joshi, PK, Peloso, GM, Deelen, P, Van Dijk, F, Willemsen, G, De Geus, EJ, Milaneschi, Y, Penninx, BWJH, Francioli, LC, Menelaou, A, Pulit, SL, Rivadeneira, F, Hofman, A, Oostra, BA, Franco, OH, Leach, IM, Beekman, M, De Craen, AJM, Uh, HW, Trochet, H, Hocking, LJ, Porteous, DJ, Sattar, N, Packard, CJ, Buckley, BM, Brody, JA, Bis, JC, Rotter, JI, Mychaleckyj, JC, Campbell, H, Duan, Q, Lange, LA, Wilson, JF, Hayward, C, Polasek, O, Vitart, V, Rudan, I, Wright, AF, Rich, SS, Psaty, BM, Borecki, IB, Kearney, PM, Stott, DJ, Cupples, LA, Jukema, JW, Van Der Harst, P, Sijbrands, EJ, Hottenga, JJ, Uitterlinden, AG, Swertz, MA, Van Ommen, GJB, De Bakker, PIW, Eline Slagboom, P, Boomsma, DI, Wijmenga, C, Van Duijn, CM, Neerincx, PBT, Elbers, CC, Palamara, PF, Peer, I, Abdellaoui, A, Kloosterman, WP, Van Oven, M, Vermaat, M, Li, M, Laros, JFJ, Stoneking, M, De Knijff, P, Kayser, M, Veldink, JH, Van Den Berg, LH, Byelas, H, Den Dunnen, JT, Dijkstra, M, Amin, N, Van Der Velde, KJ, Van Setten, J
المصدر: Van Leeuwen, EM; Karssen, LC; Deelen, J; Isaacs, A; Medina-Gomez, C; Mbarek, H; et al.(2015). Genome of the Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels. Nature Communications, 6. doi: 10.1038/ncomms7065. UCLA: Retrieved from: http://www.escholarship.org/uc/item/0pf7030wTest
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______325::40fe9f479300706910e75022cbf7bdcaTest
http://www.escholarship.org/uc/item/0pf7030wTest -
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المؤلفون: Walenkamp, MJE, Schrama, Sabine, Kalf, ME, van Duyvenvoorde, HA, Boot, AM (Annemieke), Kant, SG, White, SJ, Losekoot, M, Dunnen, JT, Karperien, M, Wit, JM
المساهمون: Pediatrics
المصدر: Journal of Clinical Endocrinology and Metabolism, 96(6), 2421-2425. Endocrine Society
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=narcis______::8dec6b44e1462e18970da9f48c94ffe5Test
https://pure.eur.nl/en/publications/f364df43-952e-4f40-a1d6-2f4279c758f5Test -
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المؤلفون: Den Dunnen Jt, Wapenaar Mc
مصطلحات موضوعية: chemistry.chemical_compound, Exon, Exon trapping, chemistry, Computational biology, Biology, DNA, Insert (molecular biology)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::75f1ac5925ec7ddf65b3f0329e71deb3Test
https://doi.org/10.1385/1-59259-235-x:201Test -
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المؤلفون: den Dunnen Jt
مصطلحات موضوعية: Exon, Exon trapping, cDNA library, Complementary DNA, Cosmid, Genomic library, Biology, Molecular biology, Gene, Reverse transcriptase
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::43c51aced7e1ae84702abdc994859315Test
https://doi.org/10.1016/s0076-6879Test(99)03009-8 -
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المؤلفون: J.T. den Dunnen, Annibale Alessandro Puca, Margherita Mariani, Eugenio Montini, Elena I. Rugarli, G. Giacomo Consalez, Grazia Andolfi, Brunella Franco, Andrea Ballabio, E. van de Vosse
المساهمون: Montini, E, Rugarli, Ei, Van de Vosse, E, Andolfi, G, Mariani, M, Puca, Aa, Consalez, GIAN GIACOMO, den Dunnen, Jt, Ballabio, A, Franco, B.
مصطلحات موضوعية: Retinal degeneration, DNA, Complementary, Genetic Linkage, Phosphatase, Molecular Sequence Data, Mice, Inbred Strains, Biology, Exon, Mice, Ganglia, Spinal, Gene expression, Genetics, medicine, Phosphoprotein Phosphatases, Gene family, Animals, Drosophila Proteins, Humans, Tissue Distribution, Amino Acid Sequence, Neurons, Afferent, Molecular Biology, Genetics (clinical), In Situ Hybridization, Polymorphism, Single-Stranded Conformational, Sequence Homology, Amino Acid, Calcium-Binding Proteins, Retinal Degeneration, Cranial Nerves, Neural crest, Chromosome Mapping, Gene Expression Regulation, Developmental, General Medicine, medicine.disease, Embryo, Mammalian, Molecular biology, Sensory neuron, Mice, Inbred C57BL, Alternative Splicing, medicine.anatomical_structure, Neural Crest, Mutation, RNA, Drosophila Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b309576c68d5e710bdba721fcee7775Test