المؤلفون: Sandling, JK., Rosenberg, L. Hultin, Farias, FHG., Alexsson, A., Leonard, D., Kozyrev, S., Murén, E., Karlsson, Å., Mathioudaki, A., Pucholt, P., Eriksson, D., Pielberg, G., Meadows, J., Nordin, J., Dahlqvist, J., Bianchi, M., Jonsson, R., Omdal, R., Lerang, K., Molberg, Ø., Lie, BA., Massarenti, L., Jacobsen, S., Voss, A., Jakobsen, MA., Lillevang, ST., Troldborg, AM., Steffensen, Rudi, Bengtsson, C., Jönsen, A., Padyukov, L., Eloranta, M-L., Sjöwall, C., Gunnarsson, I., Svenungsson, E., Rantapää-Dahlqvist, S., Bengtsson, AA., Syvänen, A-C., Lindblad-Toh, K., Rönnblom, L.

المصدر: Sandling, JK, Rosenberg, L H, Farias, FHG, Alexsson, A, Leonard, D, Kozyrev, S, Murén, E, Karlsson, Å, Mathioudaki, A, Pucholt, P, Eriksson, D, Pielberg, G, Meadows, J, Nordin, J, Dahlqvist, J, Bianchi, M, The ImmunoArray Development Consortium, Jonsson, R, Omdal, R, Lerang, K, Molberg, Ø, Lie, BA, Massarenti, L, Jacobsen, S, Voss, A, Jakobsen, MA, Lillevang, ST, Troldborg, AM, Steffensen, R, Bengtsson, C, Jönsen, A, Padyukov, L, Eloranta, M-L, Sjöwall, C, Gunnarsson, I, Svenungsson, E, Rantapää-Dahlqvist, S, Bengtsson, AA, Syvänen, A-C, Lindblad-Toh, K, Rönnblom, L & The DISSECT Consortium 2019, ' Targeted next-generation sequencing suggests novel risk loci in juvenile onset systemic lupus erythematosus ', 52nd European Society of Human Genetics Conference (ESHG), Gøteborg, Sweden, 15/06/2019-18/06/2019 .
Sandling, JK, Rosenberg, L H, Farias, FHG, Alexsson, A, Leonard, D, Kozyrev, S, Murén, E, Karlsson, Å, Mathioudaki, A, Pucholt, P, Eriksson, D, Pielberg, G, Meadows, J, Nordin, J, Dahlqvist, J, Bianchi, M, The ImmunoArray Development Consortium, Jonsson, R, Omdal, R, Lerang, K, Molberg, Ø, Lie, BA, Massarenti, L, Jacobsen, S, Voss, A, Jakobsen, MA, Lillevang, ST, Troldborg, AM, Steffensen, R, Bengtsson, C, Jönsen, A, Padyukov, L, Eloranta, M-L, Sjöwall, C, Gunnarsson, I, Svenungsson, E, Rantapää-Dahlqvist, S, Bengtsson, AA, Syvänen, A-C, Lindblad-Toh, K, Rönnblom, L & The DISSECT Consortium 2019, ' Targeted next-generation sequencing suggests novel risk loci in juvenile onset systemic lupus erythematosus ', European Journal of Human Genetics, vol. 27, no. Suppl. 2, P07.28D, pp. 1372 . < https://www.nature.com/articles/s41431-019-0494-2Test >

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1b4f875fb46c4729b20b6e96782d92b2Test
https://vbn.aau.dk/da/publications/7188acd0-e0af-4455-bd84-5fd9ff0b8717Test

المؤلفون: Henriksen, EKK, Viken, MK, Wittig, M, Holm, K, Folseraas, T, Mucha, S, Melum, E, Hov, JR, Lazaridis, KN, Juran, BD, Chazouillères, O, Färkkilä, M, Gotthardt, DN, Invernizzi, P, Carbone, M, Hirschfield, GM, Rushbrook, SM, Goode, E, UK-PSC Consortium, Ponsioen, CY, Weersma, RK, Eksteen, B, Yimam, KK, Gordon, SC, Goldberg, D, Yu, L, Bowlus, CL, Franke, A, Lie, BA, Karlsen, TH

المصدر: HLA, vol 90, iss 4

مصطلحات موضوعية: Cholangitis, Gene Expression, Scandinavian and Nordic Countries, Autoimmune Disease, Sclerosing, Linkage Disequilibrium, White People, Gene Frequency, PSC, UK-PSC Consortium, human leukocyte antigen, Clinical Research, multi-ethnic, Ethnicity, Genetics, Humans, HLA-DQ beta-Chains, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, Aetiology, Alleles, causative, Human Genome, Haplotypes, trans-ancestry, HLA-DRB1 Chains

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______325::8659da7c5aec11bb61dd5bbb2379e241Test
https://escholarship.org/uc/item/5cr1s258Test

المؤلفون: Witoelar, A, Jansen, IE, Wang, Y, Desikan, RS, Gibbs, JR, Blauwendraat, C, Thompson, WK, Hernandez, DG, Djurovic, S, Schork, AJ, Bettella, F, Ellinghaus, D, Franke, A, Lie, BA, McEvoy, LK, Karlsen, T, Lesage, S, Morris, HR, Brice, A, Wood, NW, Heutink, P, Hardy, J, Singleton, AB, Dale, AM, Gasser, T, Andreassen, OA, Sharma, M, Conso, IPDG, Amer, BECN, Co, UKBE

المصدر: Witoelar, A; Jansen, IE; Wang, Y; Desikan, RS; Gibbs, JR; Blauwendraat, C; et al.(2017). Genome-wide Pleiotropy Between Parkinson Disease and Autoimmune Diseases. JAMA NEUROLOGY, 74(7), 780-792. doi: 10.1001/jamaneurol.2017.0469. UC San Diego: Retrieved from: http://www.escholarship.org/uc/item/3dn2j864Test

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______325::a85ef1126755d80c028e0ccfffa4e41eTest
http://www.escholarship.org/uc/item/3dn2j864Test

المؤلفون: Carmona, DF, Vaglio, A, Mackie, SL, Hernández-Rodríguez, J, Monach, PA, Castaneda, S, Solans, R, Morado, IC, Narvaez, J, Ramentol-Sintas, M, Pease, CT, Dasgupta, B, Watts, R, Khalidi, N, Langford, CA, Ytterberg, S, Boiardi, L, Beretta, L, Govoni, M, Emmi, G, Bonatti, F, Cimmino, MA, Witte, T, Neumann, T, Holle, A, Schonau, V, Sailler, L, Papo, T, Haroche, J, Mahr, A, Mouthon, L, Molberg, O, Diamantopoulos, AP, Voskuyl, A, Brouwer, E, Daikeler, T, Berger, CT, Molloy, ES, O'Neill, L, Blockmans, D, Lie, BA, Mclaren, P, Vyse, TJ, Wijmenga, C, Allanore, Y, Koeleman, BPC, Spanish CGA Group, UKGCA Consortium, Vasculitis Clinical Research Consortium, Barrett, JH, Cid, MC, Salvarini, C, Merkel, PA, Morgan, AW, Gonzalez-Gay, MA, Martin, J

مصطلحات موضوعية: Genetics, Journal Article, Genetics(clinical)

وصف الملف: image/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::d9c5ce8b625827ed76564ec7a3bc5c06Test
https://dspace.library.uu.nl/handle/1874/356608Test

المؤلفون: Andreassen, Ole Andreas, Desikan, RS, Wang, Yunpeng, Thompson, WK, Schork, AJ, Zuber, Verena, Doncheva, NT, Ellinghaus, E, Mattingsdal, Morten, Franke, A, Lie, BA, Mills, Ian Geoffrey, Aukrust, Pål, McEvoy, LK, Djurovic, Srdjan, Karlsen, TH, Dale, AM

المصدر: e0123057
PLoS ONE

مصطلحات موضوعية: lipids (amino acids, peptides, and proteins)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::0df0f1498069535893e6f05813101ff5Test
https://hdl.handle.net/1956/9839Test

المؤلفون: Andreassen, OA, Harbo, HF, Wang, Y, Thompson, WK, Schork, AJ, Mattingsdal, M, Zuber, V, Bettella, F, Ripke, S, Kelsoe, JR, Kendler, KS, O'Donovan, MC, Sklar, P, Psychiatric Genomics Consortium (PGC) Bipolar Disorder and Schizophrenia Work Groups, International Multiple Sclerosis Genetics Consortium (IMSGC), McEvoy, LK, Desikan, RS, Lie, BA, Djurovic, S, Dale, AM

المصدر: Molecular psychiatry, vol 20, iss 2

مصطلحات موضوعية: Male, Multiple Sclerosis, Bipolar Disorder, Genotype, Psychiatric Genomics Consortium (PGC) Bipolar Disorder and Schizophrenia Work Groups, Neurodegenerative, Autoimmune Disease, Medical and Health Sciences, HLA Antigens, Clinical Research, Genetics, Humans, 2.1 Biological and endogenous factors, Genetic Predisposition to Disease, Inflammatory and Immune System, Aetiology, Polymorphism, Psychiatry, Prevention, Human Genome, Psychology and Cognitive Sciences, Neurosciences, Genetic Pleiotropy, Single Nucleotide, Biological Sciences, Serious Mental Illness, polygenic pleiotropy, International Multiple Sclerosis Genetics Consortium, Brain Disorders, HLA region, schizophrenia, Mental Health, Female, false discovery rate, Follow-Up Studies, Genome-Wide Association Study

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ba1e6a9a05afb55f678d8b5f0f7cd23bTest
https://escholarship.org/uc/item/39p9n9q8Test

المؤلفون: Dibbens, Lm, Mullen, S, Helbig, I, Mefford, Hc, Bayly, Ma, Bellows, S, Leu, C, Trucks, H, Obermeier, T, Wittig, M, Franke, A, Caglayan, H, Yapici, Z, Sander, T, Eichler, Ee, Scheffer, Ie, Mulley, Jc, Berkovic, Sf, De Jonghe, P, Suls, A, Hjalgrim, H, Madsen, Jm, Møller, Rs, Lehesjoki, Ae, Siren, A, Gaus, V, Janz, D, Schmitz, B, Elger, Ce, Hallmann, K, Kleefuß-Lie, Aa, Kunz, Ws, Raabe, A, Muhle, H, Ostertag, P, von Spiczak, S, Stephani, U, Lerche, H, Weber, Yg, Striano, P, Zara, F, Marini, C, Brilstra, Eh, Kastelijn-Nolst, Trenité, Koeleman, D, Bpc, de Kovel, Cgf, Lindhout, D, Swinkels, Mem, Yalcin, O, Baykan, B, Turkdogan, D, Dizdarer, G, Ozkara, C, Lee, Y, Müller-Quernheim, J, Fölster-Holst, R, Hofmann, S, Nebel, A., Schreiber, S, Schürmann, M, Rodriguez, E, Weidinger, S, Baurecht, H, Lie, Ba, Boberg, Km, Karlsen, Th.

المساهمون: De Jonghe, Peter, Suls, Arvid, Dibbens, Leanne M, Mullen, Saul, Helbig, Ingo, Mefford, Heather C, Bayly, Marta A, Bellows, Susannah, Leu, Costin, Trucks, Holger, Obermeier, Tanja, Wittig, Michael, Franke, Andre, Caglayan, Hande, Yapici, Zuhal, Sander, Thomas, Eichler, Evan E, Scheffer, Ingrid E, Mulley, John C, Berkovic, Samuel F

المصدر: Human molecular genetics
Dibbens, L M, Mullen, S, Helbig, I, Mefford, H C, Bayly, M A, Bellows, S, Leu, C, Trucks, H, Obermeier, T, Wittig, M, Franke, A, Caglayan, H, Yapici, Z, EPICURE Consortium, Sander, T, Eichler, E E, Scheffer, I E, Mulley, J C, Berkovic, S F & Møller, R S 2009, ' Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy : precedent for disorders with complex inheritance ', Human Molecular Genetics, vol. 18, no. 19, pp. 3626-31 . https://doi.org/10.1093/hmg/ddp311Test

مصطلحات موضوعية: Male, Proband, Clinical Sciences, idiopathic generalized epilepsy, European Continental Ancestry Group, Single-nucleotide polymorphism, Pedigree chart, family studies, Biology, White People, Cohort Studies, Idiopathic generalized epilepsy, Epilepsy, single nucleotide polymorphism, genetic inheritance, Genetics, medicine, inheritance, Humans, SNP, Genetic Predisposition to Disease, Molecular Biology, Genetics (clinical), seizures, Chromosomes, Human, Pair 15, Articles, General Medicine, 5q13.3 deletions, medicine.disease, Penetrance, Pedigree, Female, Human medicine, microdeletion, Chromosome Deletion, Comparative genomic hybridization

وصف الملف: pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0cb5ead900b636337d02d9ce1deb538dTest
https://hdl.handle.net/10067/818860151162165141Test

المؤلفون: Lie, Ba, Mora, B, Boland, A, Thorsby, E, Mazzilli, Mc, Absi, L, Arranz, E, Bonamico, M, Borelli, Iolanda, Corazza, Gr, De la Concha EG, Drubek, J, Fasano, Me, Fernandez, L, Garrote, Ja, Gay, C, Greco, L, Kerhin Brklijacic, V, Lolek, A, Li, H, Louka, As, Mantovani, V, Neuhausen, Sl, Percopo, S, Perz Bravo, F, Pozsonyi, Rosati, R, Rajczy, Salvaneschi, L, Schoch, G, Sollid, Lm, Testi, M, Thomson, G, Zone JJ Zunec, R.

مصطلحات موضوعية: HLA complex, celiac disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______970::83858fb0812a907e90e9469f393d2b9cTest
http://hdl.handle.net/2318/50514Test

المؤلفون: Lie, Ba, Mora, B, Boland, A, Thorsby, E, Mazzilli, Maria Cristina

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3686::ab7132c4e8900870ff63761e671d276cTest
http://hdl.handle.net/11573/147387Test

المؤلفون: Lie, Ba, Mora, B, Boland, A, Thosby, E, Mazzilli, Maria Cristina, Bonamico, Margherita, Zunec, R.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od______3686::0f7d0cbd6644a4f46e43611383a0a759Test
http://hdl.handle.net/11573/148516Test