المؤلفون: Occelli, Laurence, Daruwalla, Anahita, De Silva, Samantha, Winkler, Paige, Sun, Kelian, Pasmanter, Nathaniel, Minella, Andrea, Querubin, Janice, Lyons, Leslie, Robson, Anthony, Heon, Elise, Michaelides, Michel, Webster, Andrew, Palczewski, Krzysztof, Vincent, Ajoy, Mahroo, Omar, Kiser, Philip, Petersen-Jones, Simon

المصدر: Human Molecular Genetics. 31(8)

مصطلحات موضوعية: Alcohol Oxidoreductases, Animals, Atrophy, Cats, Electroretinography, Humans, Macular Degeneration, Mice, Models, Animal, Phenotype, Retinal Diseases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2623r6z7

المؤلفون: Wang, ZM, Zhu, B, Zhang, MF, Parikh, H, Jia, JP, Chung, CC, Sampson, JN, Hoskins, JW, Hutchinson, A, Burdette, L, Ibrahim, A, Hautman, C, Raj, PS, Abnet, CC, Adjei, AA, Ahlbom, A, Albanes, D, Allen, NE, Ambrosone, CB, Aldrich, M, Amiano, P, Amos, C, Andersson, U, Andriole, G, Andrulis, IL, Arici, C, Arslan, AA, Austin, MA, Baris, D, Barkauskas, DA, Bassig, BA, Freeman, LEB, Berg, CD, Berndt, SI, Bertazzi, PA, Biritwum, RB, Black, A, Blot, W, Boeing, H, Boffetta, P, Bolton, K, Boutron-Ruault, MC, Bracci, PM, Brennan, P, Brinton, LA, Brotzman, M, Bueno-de-Mesquita, HB, Buring, JE, Butler, MA, Cai, QY, Cancel-Tassin, G, Canzian, F, Cao, GW, Caporaso, NE, Carrato, A, Carreon, T, Carta, A, Chang, GC, Chang, IS, Chang-Claude, J, Che, X, Chen, CJ, Chen, CY, Chen, CH, Chen, C, Chen, KY, Chen, YM, Chokkalingam, AP, Chu, LW, Clavel-Chapelon, F, Colditz, GA, Colt, JS, Conti, D, Cook, MB, Cortessis, VK, Crawford, ED, Cussenot, O, Davis, FG, De Vivo, I, Deng, X, Ding, T, Dinney, CP, Di Stefano, AL, Diver, WR, Duell, EJ, Elena, JW, Fan, JH, Feigelson, HS, Feychting, M, Figueroa, JD, Flanagan, AM, Fraumeni, JF, Freedman, ND, Fridley, BL, Fuchs, CS, Gago-Dominguez, M, Gallinger, S, Gao, YT, Gapstur, SM, Garcia-Closas, M, Garcia-Closas, R, Gastier-Foster, JM, Gaziano, JM, Gerhard, DS, Giffen, CA, Giles, GG, Gillanders, EM, Giovannucci, EL, Goggins, M, Gokgoz, N, Goldstein, AM, Gonzalez, C, Gorlick, R, Greene, MH, Gross, M, Grossman, HB, Grubb, R, Gu, J, Guan, P, Haiman, CA, Hallmans, G, Hankinson, SE, Harris, CC, Hartge, P, Hattinger, C, Hayes, RB, He, QC, Helman, L, Henderson, BE, Henriksson, R, Hoffman-Bolton, J, Hohensee, C, Holly, EA, Hong, YC, Hoover, RN, Hosgood, HD, Hsiao, CF, Hsing, AW, Hsiung, CA, Hu, N, Hu, W, Hu, ZB, Huang, MS, Hunter, DJ, Inskip, PD, Ito, H, Jacobs, EJ, Jacobs, KB, Jenab, M, Ji, BT, Johansen, C, Johansson, M, Johnson, A, Kaaks, R, Kamat, AM, Kamineni, A, Karagas, M, Khanna, C, Khaw, KT, Kim, C, Kim, IS, Kim, JH, Kim, YH, Kim, YC, Kim, YT, Kang, CH, Jung, YJ, Kitahara, CM, Klein, AP, Klein, R, Kogevinas, M, Koh, WP, Kohno, T, Kolonel, LN, Kooperberg, C, Kratz, CP, Krogh, V, Kunitoh, H, Kurtz, RC, Kurucu, N, Lan, Q, Lathrop, M, Lau, CC, Lecanda, F, Lee, KM, Lee, MP, Le Marchand, L, Lerner, SP, Li, DH, Liao, LM, Lim, WY, Lin, DX, Lin, J, Lindstrom, S, Linet, MS, Lissowska, J, Liu, JJ, Ljungberg, B, Lloreta, J, Lu, DR, Ma, J, Malats, N, Mannisto, S, Marina, N, Mastrangelo, G, Matsuo, K, McGlynn, KA, McKean-Cowdin, R, McNeill, LH, McWilliams, RR, Melin, BS, Meltzer, PS, Mensah, JE, Miao, XP, Michaud, DS, Mondul, AM, Moore, LE, Muir, K, Niwa, S, Olson, SH, Orr, N, Panico, S, Park, JY, Patel, AV, Patino-Garcia, A, Pavanello, S, Peeters, PHM, Peplonska, B, Peters, U, Petersen, GM, Picci, P, Pike, MC, Porru, S, Prescott, J, Pu, X, Purdue, MP, Qiao, YL, Rajaraman, P, Riboli, E, Risch, HA, Rodabough, RJ, Rothman, N, Ruder, AM, Ryu, JS, Sanson, M, Schned, A, Schumacher, FR, Schwartz, AG, Schwartz, KL, Schwenn, M, Scotlandi, K, Seow, A, Serra, C, Serra, M, Sesso, HD, Severi, G, Shen, HB, Shen, M, Shete, S, Shiraishi, K, Shu, XO, Siddiq, A, Sierrasesumaga, L, Sierri, S, Sihoe, ADL, Silverman, DT, Simon, M, Southey, MC, Spector, L, Spitz, M, Stampfer, M, Stattin, P, Stern, MC, Stevens, VL, Stolzenberg-Solomon, RZ, Stram, DO, Strom, SS, Su, WC, Sund, M, Sung, SW, Swerdlow, A, Tan, W, Tanaka, H, Tang, W, Tang, ZZ, Tardon, A, Tay, E, Taylor, PR, Tettey, Y, Thomas, DM, Tirabosco, R, Tjonneland, A, Tobias, GS, Toro, JR, Travis, RC, Trichopoulos, D, Troisi, R, Truelove, A, Tsai, YH, Tucker, MA, Tumino, R, Van Den Berg, D, Van Den Eeden, SK, Vermeulen, R, Vineis, P, Visvanathan, K, Vogel, U, Wang, CY, Wang, CF, Wang, JW, Wang, SS, Weiderpass, E, Weinstein, SJ, Wentzensen, N, Wheeler, W, White, E, Wiencke, JK, Wolk, A, Wolpin, BM, Wong, MP, Wrensch, M, Wu, C, Wu, TC, Wu, XF, Wu, YL, Wunder, JS, Xiang, YB, Xu, J, Yang, HP, Yang, PC, Yatabe, Y, Ye, YQ, Yeboah, ED, Yin, ZH, Ying, C, Yu, CJ, Yu, K, Yuan, JM, Zanetti, KA, Zeleniuch-Jacquotte, A, Zheng, W, Zhou, BS, Mirabello, L, Savage, SA, Kraft, P, Chanock, SJ, Yeager, M, Landi, MT, Shi, JX, Chatterjee, N, Amundadottir, LT

المصدر: Human molecular genetics. 23(24):6616-6633

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:130517501

المؤلفون: Kaiser, Frank J, Ansari, Morad, Braunholz, Diana, Concepción Gil-Rodríguez, María, Decroos, Christophe, Wilde, Jonathan J, Fincher, Christopher T, Kaur, Maninder, Bando, Masashige, Amor, David J, Atwal, Paldeep S, Bahlo, Melanie, Bowman, Christine M, Bradley, Jacquelyn J, Brunner, Han G, Clark, Dinah, Del Campo, Miguel, Di Donato, Nataliya, Diakumis, Peter, Dubbs, Holly, Dyment, David A, Eckhold, Juliane, Ernst, Sarah, Ferreira, Jose C, Francey, Lauren J, Gehlken, Ulrike, Guillén-Navarro, Encarna, Gyftodimou, Yolanda, Hall, Bryan D, Hennekam, Raoul, Hudgins, Louanne, Hullings, Melanie, Hunter, Jennifer M, Yntema, Helger, Innes, A Micheil, Kline, Antonie D, Krumina, Zita, Lee, Hane, Leppig, Kathleen, Lynch, Sally Ann, Mallozzi, Mark B, Mannini, Linda, McKee, Shane, Mehta, Sarju G, Micule, Ieva, Care4Rare Canada Consortium, Mohammed, Shehla, Moran, Ellen, Mortier, Geert R, Moser, Joe-Ann S, Noon, Sarah E, Nozaki, Naohito, Nunes, Luis, Pappas, John G, Penney, Lynette S, Pérez-Aytés, Antonio, Petersen, Michael B, Puisac, Beatriz, Revencu, Nicole, Roeder, Elizabeth, Saitta, Sulagna, Scheuerle, Angela E, Schindeler, Karen L, Siu, Victoria M, Stark, Zornitza, Strom, Samuel P, Thiese, Heidi, Vater, Inga, Willems, Patrick, Williamson, Kathleen, Wilson, Louise C, University of Washington Center for Mendelian Genomics, Hakonarson, Hakon, Quintero-Rivera, Fabiola, Wierzba, Jolanta, Musio, Antonio, Gillessen-Kaesbach, Gabriele, Ramos, Feliciano J, Jackson, Laird G, Shirahige, Katsuhiko, Pié, Juan, Christianson, David W, Krantz, Ian D, Fitzpatrick, David R, Deardorff, Matthew A

المصدر: Human molecular genetics. 23(11)

مصطلحات موضوعية: Care4Rare Canada Consortium, University of Washington Center for Mendelian Genomics, Humans, Hypertelorism, De Lange Syndrome, Eye Abnormalities, Histone Deacetylases, Repressor Proteins, Cohort Studies, Sequence Alignment, Amino Acid Sequence, Phenotype, Mutation, Missense, Molecular Sequence Data, Child, Child, Preschool, Infant, Female, Male, Genes, X-Linked, Cranial Fontanelles, Genetics, Rare Diseases, Dental/Oral and Craniofacial Disease, Intellectual and Developmental Disabilities (IDD), Pediatric, Brain Disorders, 2.1 Biological and endogenous factors, 4.1 Discovery and preclinical testing of markers and technologies, Detection, screening and diagnosis, Aetiology, Congenital, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/77x9r19n

المؤلفون: Mangino, Massimo, Hwang, Shih-Jen, Spector, Timothy, Hunt, Steven, Kimura, Masayuki, Fitzpatrick, Annette, Christiansen, Lene, Petersen, Inge, Elbers, Clara, Harris, Tamara, Chen, Wei, Srinivasan, Sathanur, Kark, Jeremy, Benetos, Athanase, El Shamieh, Said, Visvikis-Siest, Sophie, Christensen, Kaare, Berenson, Gerald, Valdes, Ana, Viñuela, Ana, Garcia, Melissa, Arnett, Donna, Broeckel, Ulrich, Province, Michael, Pankow, James, Kammerer, Candace, Liu, Yongmei, Nalls, Michael, Tishkoff, Sarah, Thomas, Fridtjof, Psaty, Bruce, Bis, Joshua, Taylor, Kent, Smith, Erin, Schork, Nicholas, Levy, Daniel, Aviv, Abraham, Ziv, Elad, Rotter, Jerome

المصدر: Human Molecular Genetics. 21(24)

مصطلحات موضوعية: Genome-Wide Association Study, Humans, Kruppel-Like Transcription Factors, Telomere, Telomere Homeostasis, Telomere-Binding Proteins

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7gz666wr
https://escholarship.org/content/qt7gz666wr/qt7gz666wr.pdf

المؤلفون: Rademakers, Rosa, Eriksen, Jason L, Baker, Matt, Robinson, Todd, Ahmed, Zeshan, Lincoln, Sarah J, Finch, Nicole, Rutherford, Nicola J, Crook, Richard J, Josephs, Keith A, Boeve, Bradley F, Knopman, David S, Petersen, Ronald C, Parisi, Joseph E, Caselli, Richard J, Wszolek, Zbigniew K, Uitti, Ryan J, Feldman, Howard, Hutton, Michael L, Mackenzie, Ian R, Graff-Radford, Neill R, Dickson, Dennis W

المصدر: Human Molecular Genetics. 17(23)

مصطلحات موضوعية: Rare Diseases, Aging, Alzheimer's Disease including Alzheimer's Disease Related Dementias (AD/ADRD), Neurosciences, Brain Disorders, Neurodegenerative, Frontotemporal Dementia (FTD), Dementia, Acquired Cognitive Impairment, Genetics, Alzheimer's Disease Related Dementias (ADRD), Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Neurological, Aged, Base Sequence, Binding Sites, Brain, DNA-Binding Proteins, Female, Gene Expression Regulation, Genetic Variation, Genotype, Humans, Intercellular Signaling Peptides and Proteins, Male, MicroRNAs, Middle Aged, Molecular Sequence Data, Mutation, Progranulins, Protein Biosynthesis, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7bj988f5

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المؤلفون: Marie Bækvad-Hansen, James T.R. Walters, Sophie E. Legge, Merete Nordentoft, Jonas Bybjerg-Grauholm, Preben Bo Mortensen, Rune Haubo Bojesen Christensen, Steven Knapper, Matthew Bracher-Smith, Antonio F. Pardiñas, Michael John Owen, Michael Conlon O'Donovan, Michael E. Benros, Thomas Werge, David M. Hougaard, Liselotte Petersen

المصدر: Human Molecular Genetics
Legge, S E, Christensen, R H, Petersen, L, Pardiñas, A F, Bracher-Smith, M, Knapper, S, Bybjerg-Grauholm, J, Baekvad-Hansen, M, Hougaard, D M, Werge, T, Nordentoft, M, Mortensen, P B, Owen, M J, O'Donovan, M C, Benros, M E & Walters, J T R 2020, ' The Duffy-null genotype and risk of infection ', Human Molecular Genetics, vol. 29, no. 20, pp. 2241-3349 . https://doi.org/10.1093/hmg/ddaa208
Legge, S E, Christensen, R H, Petersen, L, Pardiñas, A F, Bracher-Smith, M, Knapper, S, Bybjerg-Grauholm, J, Baekvad-Hansen, M, Hougaard, D M, Werge, T, Nordentoft, M, Mortensen, P B, Owen, M J, O'Donovan, M C, Benros, M E & Walters, J T R 2020, ' The Duffy-null genotype and risk of infection ', Human Molecular Genetics, vol. 29, no. 20, pp. 3341-3349 . https://doi.org/10.1093/hmg/ddaa208

مصطلحات موضوعية: AcademicSubjects/SCI01140, Male, Genotype, Population, Black People, Serious infection, Biology, Infections, Polymorphism, Single Nucleotide, White People, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Polymorphism (computer science), White blood cell, Genetics, medicine, Humans, education, Molecular Biology, Genetics (clinical), Biological Specimen Banks, 030304 developmental biology, 0303 health sciences, education.field_of_study, Risk of infection, General Medicine, Middle Aged, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Immunology, Absolute neutrophil count, Female, General Article, Duffy Blood-Group System, Cohort study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb000b27220522e4838eec2d53c870b2
https://doi.org/10.1093/hmg/ddaa208

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المؤلفون: Ertekin-Taner, N, Ronald, J, Feuk, L, Prince, J, Tucker, M, Younkin, L, Hella, M, Jain, S, Hackett, A, Scanlin, L, Kelly, J, Kihiko-Ehman, M, Neltner, M, Hersh, L, Kindy, M, Markesbery, W, Hutton, M, de Andrade, M, Petersen, RC, Graff-Radford, N, Estus, S, Brookes, AJ, Younkin, SG

المصدر: Human molecular genetics. 14(3):447-460

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:1928644

المؤلفون: Occelli, Laurence M, Daruwalla, Anahita, Silva, Samantha R De, Winkler, Paige A, Sun, Kelian, Pasmanter, Nathaniel, Minella, Andrea, Querubin, Janice, Lyons, Leslie A, Consortium, 99 Lives, Robson, Anthony G, Heon, Elise, Michaelides, Michel, Webster, Andrew R, Palczewski, Krzysztof, Vincent, Ajoy, Mahroo, Omar A, Kiser, Philip D, Petersen-Jones, Simon M

المصدر: Human Molecular Genetics; 4/15/2022, Vol. 31 Issue 8, p1263-1277, 15p