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1دورية أكاديمية
المؤلفون: Lalli, MA, Bettcher, BM, Arcila, ML, Garcia, G, Guzman, C, Madrigal, L, Ramirez, L, Acosta-Uribe, J, Baena, A, Wojta, KJ, Coppola, G, Fitch, R, De Both, MD, Huentelman, MJ, Reiman, EM, Brunkow, ME, Glusman, G, Roach, JC, Kao, AW, Lopera, F, Kosik, KS
المصدر: Molecular Psychiatry. 20(11)
مصطلحات موضوعية: Psychiatry, Medical and Health Sciences, Biological Sciences, Psychology and Cognitive Sciences
الوصول الحر: https://escholarship.org/uc/item/1gx1d02vTest
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2دورية أكاديمية
المؤلفون: Ptacek, Louis, Viollet, L, Glusman, G, Murphy, KJ, Newcomb, TM, Reyna, SP, Sweney, M, Nelson, B, Andermann, F, Andermann, E, Acsadi, G
الوصول الحر: https://escholarship.org/uc/item/5g44z546Test
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3دورية أكاديمية
المؤلفون: Corpas, M, Beck, S, Glusman, G, Shabani, M
المصدر: Frontiers in Genetics , 12 , Article 687584. (2021)
مصطلحات موضوعية: personal genomics, direct-to-consumer genetic testing, citizen science, data sharing, ethical, legal, social implications
وصف الملف: text
العلاقة: https://discovery.ucl.ac.uk/id/eprint/10130426/1/Editorial%20Personal%20Genomes%20Accessing,%20Sharing,%20and%20Interpretation.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10130426Test/
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4دورية أكاديمية
المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM
المصدر: Genome biology. 15(3):R53
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Hu, H, Petousi, N, Glusman, G, Yu, Y, Bohlender, R, Tashi, T, Downie, J, Roach, J, Cole, A, Lorenzo, F, Rogers, A, Brunkow, M, Cavalleri, G, Hood, L, Alpatty, S, Prchal, J, Jorde, L, Robbins, P, Simonson, T, Huff, C
العلاقة: https://ora.ox.ac.uk/objects/uuid:7d98a200-64ac-44cb-97fc-6ee52cbf983bTest; https://doi.org/10.1371/journal.pgen.1006675Test
الإتاحة: https://doi.org/10.1371/journal.pgen.1006675Test
https://ora.ox.ac.uk/objects/uuid:7d98a200-64ac-44cb-97fc-6ee52cbf983bTest -
6دورية أكاديمية
المؤلفون: Corpas, M., Valdivia-Granda, W., Torres, N., Greshake, B., Coletta, A., Knaus, A., Harrison, A.P., Cariaso, M., Moran, F., Nielsen, F., Swan, D., Weiss Solís, D.Y., Krawitz, P., Schacherer, F., Schols, P., Yang, H., Borry, P., Glusman, G., Robinson, P.N.
وصف الملف: application/pdf
العلاقة: https://westminsterresearch.westminster.ac.uk/download/553913cc2cd491ae1ec4f267b5ac37218c00e29fa596e2fadc23ba1190ae3465/3098659/s12864-015-1973-7.pdfTest; https://doi.org/10.1186/s12864-015-1973-7Test; Corpas, M., Valdivia-Granda, W., Torres, N., Greshake, B., Coletta, A., Knaus, A., Harrison, A.P., Cariaso, M., Moran, F., Nielsen, F., Swan, D., Weiss Solís, D.Y., Krawitz, P., Schacherer, F., Schols, P., Yang, H., Borry, P., Glusman, G. and Robinson, P.N. 2015. Crowdsourced direct-to-consumer genomic analysis of a family quartet. BMC Genomics. 16 910. https://doi.org/10.1186/s12864-015-1973-7Test
الإتاحة: https://doi.org/10.1186/s12864-015-1973-7Test
https://westminsterresearch.westminster.ac.uk/item/vv933/crowdsourced-direct-to-consumer-genomic-analysis-of-a-family-quartetTest
https://westminsterresearch.westminster.ac.uk/download/553913cc2cd491ae1ec4f267b5ac37218c00e29fa596e2fadc23ba1190ae3465/3098659/s12864-015-1973-7.pdfTest -
7دورية أكاديمية
المؤلفون: Ameziane, N. (Najim), May, P. (Patrick), Haitjema, A. (Anneke), Vrugt, H.J. (Henri) van de, Rossum-Fikkert, S.E. (Sari) van, Ristic, D. (Dejan), Williams, G.J. (Gareth J.), Balk, J. (Jesper), Rockx, D. (Davy), Li, H. (Hong), Rooimans, M.A. (Martin), Oostra, A.B. (Anneke), Velleuer, E. (Eunike), Dietrich, R. (Ralf), Bleijerveld, O.B. (Onno), Maarten Altelaar, A.F. (A. F.), Meijers-Heijboer, E.J. (Hanne), Joenje, H. (Hans), Glusman, G. (Gustavo), Roach, J. (Jared), Hood, L. (Leroy), Galas, D. (David), Wyman, C. (Claire), Balling, R. (Rudi), Den Dunnen, J.T. (Johan T.), Winter, J.P. (Johan) de, Kanaar, R. (Roland), Gelinas, R. (Richard), Dorsman, J.C. (Josephine)
المصدر: Nature Communications vol. 6
العلاقة: http://repub.eur.nl/pub/79468Test; urn:hdl:1765/79468
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8دورية أكاديمية
المؤلفون: Viollet, L, Glusman, G, Murphy, KJ, Newcomb, TM, Reyna, SP, Sweney, M, Nelson, B, Andermann, F, Andermann, E, Acsadi, G, Barbano, RL, Brown, C, Brunkow, ME, Chugani, HT, Cheyette, SR, Collins, A, DeBrosse, SD, Galas, D, Friedman, J, Hood, L, Huff, C, Jorde, LB, King, MD, LaSalle, B, Leventer, RJ, Lewelt, AJ, Massart, MB, Mérida, MR, Ptáček, LJ, Roach, JC, Rust, RS, Renault, F, Sanger, TD, Sotero de Menezes, MA, Tennyson, R, Uldall, P, Zhang, Y, Zupanc, M, Xin, W, Silver, K, Swoboda, KJ
العلاقة: pii: PONE-D-15-36413; Viollet, L., Glusman, G., Murphy, K. J., Newcomb, T. M., Reyna, S. P., Sweney, M., Nelson, B., Andermann, F., Andermann, E., Acsadi, G., Barbano, R. L., Brown, C., Brunkow, M. E., Chugani, H. T., Cheyette, S. R., Collins, A., DeBrosse, S. D., Galas, D., Friedman, J. ,. Swoboda, K. J. (2015). Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. PLoS One, 10 (8), pp.e0137370-. https://doi.org/10.1371/journal.pone.0137370Test.; http://hdl.handle.net/11343/304014Test
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9دورية أكاديمية
المؤلفون: Viollet, L, Glusman, G, Murphy, KJ, Newcomb, TM, Reyna, SP, Sweney, M, Nelson, B, Andermann, F, Andermann, E, Acsadi, G, Barbano, RL, Brown, C, Brunkow, ME, Chugani, HT, Cheyette, SR, Collins, A, DeBrosse, SD, Galas, D, Friedman, J, Hood, L, Huff, C, Jorde, LB, King, MD, LaSalle, B, Leventer, RJ, Lewelt, AJ, Massart, MB, Merida, MR, Ptacek, LJ, Roach, JC, Rust, RS, Renault, F, Sanger, TD, de Menezes, MAS, Tennyson, R, Uldall, P, Zhang, Y, Zupanc, M, Xin, W, Silver, K, Swoboda, KJ
المساهمون: Zhou, F
العلاقة: pii: PONE-D-14-55072; Viollet, L., Glusman, G., Murphy, K. J., Newcomb, T. M., Reyna, S. P., Sweney, M., Nelson, B., Andermann, F., Andermann, E., Acsadi, G., Barbano, R. L., Brown, C., Brunkow, M. E., Chugani, H. T., Cheyette, S. R., Collins, A., DeBrosse, S. D., Galas, D., Friedman, J. ,. Swoboda, K. J. (2015). Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry. PLOS ONE, 10 (5), https://doi.org/10.1371/journal.pone.0127045Test.; http://hdl.handle.net/11343/261181Test
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10دورية أكاديمية
المؤلفون: Meester, JAN, Southgate, L, Stittrich, A-B, Venselaar, H, Beekmans, SJA, den Hollander, N, Bijlsma, EK, Helderman-van den Enden, A, Verheij, JBGM, Glusman, G, Roach, JC, Lehman, A, Patel, MS, de Vries, BBA, Ruivenkamp, C, Itin, P, Prescott, K, Clarke, S, Trembath, R, Zenker, M, Sukalo, M, Van Laer, L, Loeys, B, Wuyts, W
وصف الملف: application/pdf
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/110213/1/Meester_et%20al.%20AJHG2015.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/110213/7/Meester%20et%20al.%202015%20%28Supplementary%20Data%29.pdfTest; Meester, JAN; Southgate, L; Stittrich, A-B; Venselaar, H; Beekmans, SJA; den Hollander, N; Bijlsma, EK; Helderman-van den Enden, A; Verheij, JBGM; Glusman, G; et al. Meester, JAN; Southgate, L; Stittrich, A-B; Venselaar, H; Beekmans, SJA; den Hollander, N; Bijlsma, EK; Helderman-van den Enden, A; Verheij, JBGM; Glusman, G; Roach, JC; Lehman, A; Patel, MS; de Vries, BBA; Ruivenkamp, C; Itin, P; Prescott, K; Clarke, S; Trembath, R; Zenker, M; Sukalo, M; Van Laer, L; Loeys, B; Wuyts, W (2015) Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome. Am J Hum Genet, 97 (3). pp. 475-482. ISSN 1537-6605 https://doi.org/10.1016/j.ajhg.2015.07.015Test SGUL Authors: Southgate, Laura
الإتاحة: https://doi.org/10.1016/j.ajhg.2015.07.015Test
https://openaccess.sgul.ac.uk/id/eprint/110213Test/
https://openaccess.sgul.ac.uk/id/eprint/110213/1/Meester_et%20al.%20AJHG2015.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/110213/7/Meester%20et%20al.%202015%20%28Supplementary%20Data%29.pdfTest
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