المؤلفون: Roach, JC, Freidin, MB

مصطلحات موضوعية: Hill’s Criteria, biological plausibility, correlation and causation, epistemology, genomics, multiomics, systems biology, translational science

وصف الملف: 1287894 - ?

العلاقة: Front Genet; https://qmro.qmul.ac.uk/xmlui/handle/123456789/91483Test

الإتاحة: https://doi.org/10.3389/fgene.2023.1287894Test
https://qmro.qmul.ac.uk/xmlui/handle/123456789/91483Test

المؤلفون: Maziarz, M, Janer, M, Roach, JC, Hagopian, W, Palmer, JP, Deutsch, K, Sanjeevi, CB, Kockum, I, Breslow, N, Lernmark, A

المصدر: Genes and immunity. 11(5):406-415

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:121019489Test

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

المؤلفون: Lee, JM, Kim, KH, Shin, A, Chao, MJ, Abu Elneel, K, Gillis, T, Mysore, JS, Kaye, JA, Zahed, H, Kratter, IH, Daub, AC, Finkbeiner, S, Li, H, Roach, JC, Goodman, N, Hood, L, Myers, RH, MacDonald, ME, Gusella, JF

المصدر: American Journal of Human Genetics. 97(3)

مصطلحات موضوعية: Genetics & Heredity, Biological Sciences, Medical and Health Sciences

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/55g6h26zTest

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

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736Test

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

الإتاحة: https://doi.org/10.1371/journal.pone.0137370Test
http://hdl.handle.net/11343/304014Test

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

الإتاحة: https://doi.org/10.1371/journal.pone.0127045Test
http://hdl.handle.net/11343/261181Test

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

المؤلفون: Korb, M, Rust, AG, Thorsson, V, Battail, C, Li, B, Hwang, D, Kennedy, KA, Roach, JC, Rosenberger, CM, Gilchrist, M, Zak, D, Johnson, C, Marzolf, B, Aderem, A, Shmulevich, I, Bolouri, H

المساهمون: 융합생명공학부, 10180943, Hwang, D

مصطلحات موضوعية: TRANSCRIPTION FACTORS, REGULATORY ELEMENTS, PROMOTERS, IDENTIFICATION, ACTIVATION, DISCOVERY, RESPONSES, PROGRAMS, INSIGHTS, BROWSER

العلاقة: BMC IMMUNOLOGY; SCI급, SCOPUS 등재논문; SCI; Immunology; 2015-OAK-0000011015; https://oasis.postech.ac.kr/handle/2014.oak/9858Test; 8315; BMC IMMUNOLOGY, v.9, no.7; 000254314500001

الإتاحة: https://oasis.postech.ac.kr/handle/2014.oak/9858Test

المؤلفون: Meester, JAN, Southgate, L, Stittrich, A-B, Venselaar, H, Beekmans, SJA, den Hollander, N, Bijlsma, EK, den Enden, AH-V, 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: 475 - 482

العلاقة: AMERICAN JOURNAL OF HUMAN GENETICS; http://qmro.qmul.ac.uk/xmlui/handle/123456789/19299Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2015.07.015Test
http://qmro.qmul.ac.uk/xmlui/handle/123456789/19299Test