المؤلفون: Manolio, TA, Weis, BK, Cowie, CC, Hoover, RN, Hudson, K, Kramer, BS, Berg, C, Collins, R, Ewart, W, Gaziano, JM, Hirschfeld, S, Marcus, PM, Masys, D, McCarty, CA, McLaughlin, J, Patel, AV, Peakman, T, Pedersen, NL, Schaefer, C, Scott, JA, Sprosen, T, Walport, M, Collins, FS

المصدر: American journal of epidemiology. 175(9):859-866

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:124562612Test

المؤلفون: Machol, K, Rousseau, J, Ehresmann, S, Garcia, T, Nguyen, TTM, Spillmann, RC, Sullivan, JA, Shashi, V, Jiang, YH, Stong, N, Fiala, E, Willing, M, Pfundt, R, Kleefstra, T, Cho, M T, McLaughlin, H, Piera, MR, Orellana, C, Martinez, F, Caro-Llopis, A, Monfort, S, Roscioli, T, Nixon, CY, Buckley, MF, Turner, A, Jones, WD, van Hasseit, PM, Hofstede, FC, van Gassen, K L I, Brooks, Alice, van Slegtenhorst, Marjon, Lachlan, K, Sebastian, J, Madan-Khetarpal, S, Sonal, D, Sakkubai, N, Thevenon, J, Faivre, L, Maurel, A, Petrovski, S, Krantz, ID, Tarpinian, JM, Rosenfeld, JA, Lee, BH, Campeau, PM, Adams, DR, Alejandro, ME, Allard, P, Azamian, MS, Bacino, CA, Balasubramanyam, A, Barseghyan, H, Batzli, GF, Beggs, AH, Behnam, B, Bican, A, Bick, DP, Birch, CL, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Chen, S, Clark, GD, Coakley, TR, Cogan, JD, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Davids, M, Dayal, JG, Dell'Angelica, EC, Dhar, SU, Dillon, A, Dipple, KM, Donnell-Fink, LA, Dorrani, N, Dorset, DC, Douine, ED, Draper, DD, Eckstein, DJ, Emrick, LT, Eng, CM, Eskin, A, Esteves, C, Estwick, T, Ferreira, C, Fogel, BL, Friedman, ND, Gahl, WA, Glanton, E, Godfrey, RA, Goldstein, DB, Gould, SE, Gourdine, JPF, Groden, CA, Gropman, AL, Haendel, M, Hamid, R, Hanchard, NA, Handley, LH, Herzog, MR, Holm, IA, Hom, J, Howerton, EM, Huang, Y, Jacob, HJ, Jain, M, Johnston, JM, Jones, AL, Kohane, IS, Krasnewich, DM, Krieg, EL, Krier, JB, Lalani, SR, Lalani, Lau, CC, Lazar, J, Lee, H, Levy, SE, Lewis, RA, Lincoln, SA, Lipson, A, Loo, SK, Loscalzo, J, Maas, RL, Macnamara, EF, MacRae, CA, Maduro, VV, Majcherska, MM, Malicdan, MCV, Mamounas, LA, Manolio, TA, Markello, TC, Marom, R, Martinez-Agosto, JA, Marwaha, S, May, T, McConkie-Rosell, A, McCormack, CE, McCray, AT, Might, M, Moretti, PM, Morimoto, M, Mulvihill, JJ, Murphy, JL, Muzny, DM, Nehrebecky, ME, Nelson, SF, Newberry, JS, Newman, JH, Nicholas, SK, Novacic, D, Orange, JS, Pallais, JC, Palmer, CGS, Papp, JC, Parker, NH, Pena, LDM, Phillips, JA, Posey, JE, Postlethwait, JH, Potocki, L, Pusey, BN, Reuter, CM, Robertson, AK, Rodan, LH, Sampson, JB, Samson, SL, Schoch, K, Schroeder, MC, Scott, DA, Sharma, P, Signer, R, Silverman, EK, Sinsheimer, JS, Smith, KS, Splinter, K, Stoler, JM, Sweetser, DA, Tifft, CJ, Toro, C, Tran, AA, Urv, TK, Valivullah, ZM, Vilain, E, Vogel, TP, Wahl, CE, Walley, NM, Walsh, CA, Ward, PA, Waters, KM, Westerfield, M, Wise, AL, Wolfe, LA, Worthey, EA, Yamamoto, S, Yang, YP, Yu, GY, Zastrow, DB, Zheng, A

المصدر: Machol , K , Rousseau , J , Ehresmann , S , Garcia , T , Nguyen , TTM , Spillmann , RC , Sullivan , JA , Shashi , V , Jiang , YH , Stong , N , Fiala , E , Willing , M , Pfundt , R , Kleefstra , T , Cho , M T , McLaughlin , H , Piera , MR , Orellana , C , Martinez , F , Caro-Llopis , A , Monfort , S , Roscioli , T , Nixon , CY , Buckley , MF , Turner , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

العلاقة: https://pure.eur.nl/en/publications/a9dc94a9-e8cc-40fb-b674-06d6783c3f8fTest

الإتاحة: https://doi.org/10.1016/j.ajhg.2018.11.007Test
https://pure.eur.nl/en/publications/a9dc94a9-e8cc-40fb-b674-06d6783c3f8fTest

المؤلفون: Kelly, M, Park, M, Mihalek, I, Rochtus, A, Gramm, M, Perez-Palma, E, Axeen, ET, Hung, CY, Olson, H, Swanson, L, Anselm, I, Briere, LC, High, FA, Sweetser, DA, Kayani, S, Snyder, M, Calvert, S, Scheffer, IE, Yang, E, Waugh, JL, Lal, D, Bodamer, O, Poduri, A, Adams, DR, Aday, A, Alejandro, ME, Allard, P, Ashley, EA, Azamian, MS, Bacino, CA, Baker, E, Balasubramanyam, A, Barseghyan, H, Batzli, GF, Beggs, AH, Behnam, B, Bellen, HJ, Bernstein, JA, Bican, A, Bick, DP, Birch, CL, Bonner, D, Boone, BE, Bostwick, BL, Brokamp, E, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Butte, MJ, Chen, S, Clark, GD, Coakley, TR, Cogan, JD, Colley, HA, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Davids, M, Davidson, JM, Dayal, JG, Dell'Angelica, EC, Dhar, SU, Dipple, KM, Donnell-Fink, LA, Dorrani, N, Dorset, DC, Douine, ED, Draper, DD, Dries, AM, Eckstein, DJ, Emrick, LT, Eng, CM, Enns, G-GM, Eskin, A, Esteves, C, Estwick, T, Fairbrother, L, Fernandez, L, Ferreira, C, Fieg, EL, Fisher, PG, Fogel, BL, Friedman, ND, Gahl, WA, Glanton, E, Godfrey, RA, Goldman, AM, Goldstein, DB, Gould, SE, Gourdine, J-PF, Groden, CA, Gropman, AL, Haendel, M, Hamid, R, Hanchard, NA, High, F, Holm, IA, Horn, J, Howerton, EM, Huang, Y, Jamal, F, Jiang, Y-H, Johnston, JM, Jones, AL, Karaviti, L, Koeller, DM, Kohane, IS, Kohler, JN, Konick, S, Koziura, M, Krasnewich, DM, Krier, JB, Kyle, JE, Lalani, SR, Lau, CC, Lazar, J, LeBlanc, K, Lee, BH, Lee, H, Levy, SE, Lewis, RA, Lincoln, SA, Loo, SK, Loscalzo, J, Maas, RL, Macnamara, EF, MacRae, CA, Maduro, VV, Majch-erska, MM, Malicdan, MC, Mamounas, LA, Manolio, TA, Markello, TC, Marom, R, Martin, MG, Martinez-Agosto, JA, Mar-waha, S, May, T, McConkie-Rosell, A, McCormack, CE, McCray, AF, Merker, JD, Metz, TO, Might, M, Moretti, PM, Morimoto, M, Mulvihill, JJ, Murdock, DR, Murphy, JL, Muzny, DM, Nehrebecky, ME, Nelson, SF, Newberry, JS, Newman, JH, Nicholas, SK, Novacic, D, Orange, JS, Orengo, JP, Pallais, JC, Palmer, CGS, Papp, JC, Parker, NH, Pena, LDM, Phillips, JA, Posey, JE, Postlethwait, JH, Potocki, L, Pusey, BN, Reuter, CM, Rives, L, Robertson, AK, Rodan, LH, Rosenfeld, JA, Sampson, JB, Samson, SL, Schoch, K, Scott, DA, Shakachite, L, Sharma, P, Shashi, V, Signer, R, Silverman, EK, Sinsheimer, JS, Smith, KS, Spillmann, RC, Stoler, JM, Stong, N, Sullivan, JA, Tan, QK-G, Tifft, CJ, Toro, C, Tran, AA, Urv, TK, Vilain, E, Vogel, TP, Waggott, DM, Wahl, CE, Walker, M, Walley, NM, Walsh, CA, Wan, J, Wangler, MF, Ward, PA, Waters, KM, Webb-Robertson, B-JM, Westerfield, M, Wheeler, MT, Wise, AL, Wolfe, LA, Worthey, EA, Yamamoto, S, Yang, Y, Yoon, AJ, Yu, G, Zastrow, DB, Zhao, C, Zheng, A

العلاقة: Kelly, M., Park, M., Mihalek, I., Rochtus, A., Gramm, M., Perez-Palma, E., Axeen, E. T., Hung, C. Y., Olson, H., Swanson, L., Anselm, I., Briere, L. C., High, F. A., Sweetser, D. A., Kayani, S., Snyder, M., Calvert, S., Scheffer, I. E., Yang, E. ,. Zheng, A. (2019). Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region. EPILEPSIA, 60 (3), pp.406-418. https://doi.org/10.1111/epi.14653Test.; http://hdl.handle.net/11343/285365Test

الإتاحة: https://doi.org/10.1111/epi.14653Test
http://hdl.handle.net/11343/285365Test

المؤلفون: Sapp, JC, Johnston, JJ, Driscoll, K, Heidlebaugh, AR, Miren Sagardia, A, Dogbe, DN, Umstead, KL, Turbitt, E, Alevizos, I, Baron, J, Bönnemann, C, Brooks, B, Donkervoort, S, Jee, YH, Linehan, WM, McMahon, FJ, Moss, J, Mullikin, JC, Nielsen, D, Pelayo, E, Remaley, AT, Siegel, R, Su, H, Zarate, C, Barnabas, BB, Bouffard, GG, Brooks, SY, Coleman, H, Dekhtyar, L, Guan, X, Han, J, Ho, SL, Legaspi, R, Maduro, QL, Masiello, CA, McDowell, JC, Montemayor, C, Park, M, Riebow, NL, Schandler, K, Scharer, C, Schmidt, B, Sison, C, Stantripop, S, Thomas, JW, Thomas, PJ, Vemulapalli, M, Young, AC, Manolio, TA, Biesecker, BB, Biesecker, LG

مصطلحات موضوعية: Genetics & Heredity, Humans, Incidental Findings, Pilot Projects, Genetic Counseling, Genomics, Middle Aged, Female, Male, Exome

وصف الملف: application/pdf

العلاقة: American Journal of Human Genetics; American Journal of Human Genetics, 2018, 103 (3), pp. 358 - 366; http://hdl.handle.net/10453/129810Test

الإتاحة: http://hdl.handle.net/10453/129810Test

المؤلفون: Ramos, EM, Din-Lovinescu, C, Berg, JS, Brooks, LD, Duncanson, A, Dunn, M, Good, P, Hubbard, TJP, Jarvik, GP, O'Donnell, C, Sherry, ST, Aronson, N, Biesecker, LG, Blumberg, B, Calonge, N, Colhoun, HM, Epstein, RS, Flicek, P, Gordon, ES, Green, ED, Green, RC, Hurles, M, Kawamoto, K, Knaus, W, Ledbetter, DH, Levy, HP, Lyon, E, Maglott, D, McLeod, HL, Rahman, N, Randhawa, G, Wicklund, C, Manolio, TA, Chisholm, RL, Williams, MS

المساهمون: Rahman, Sabera

مصطلحات موضوعية: Humans, Information Dissemination, Phenotype, Education, Medical Informatics, United States, National Human Genome Research Institute (U.S.), Genetic Variation, Precision Medicine

وصف الملف: Print-Electronic; 104; application/pdf

العلاقة: American journal of medical genetics. Part C, Seminars in medical genetics, 2014, 166C (1), pp. 93 - 104; https://repository.icr.ac.uk/handle/internal/1851Test

الإتاحة: https://doi.org/10.1002/ajmg.c.31386Test
https://repository.icr.ac.uk/handle/internal/1851Test

المؤلفون: Andrzej Pajak, Stefan Rywik, Richard Hutchinson, Ewa Kawalec, Clarence E. Davis, W. Piotrowski, O. D. Williams, Manolio Ta, Grażyna Broda

المصدر: Journal of Hypertension. 18:999-1006

مصطلحات موضوعية: Adult, Male, Risk, Gerontology, Aging, Arteriosclerosis, Physiology, Population, Disease, Odds Ratio, Internal Medicine, Humans, Medicine, Family history, Risk factor, education, Antihypertensive Agents, education.field_of_study, business.industry, Data Collection, Incidence (epidemiology), Blood Pressure Determination, Middle Aged, United States, Atherosclerosis Risk in Communities, Blood pressure, Cardiovascular Diseases, Hypertension, Female, Poland, Cardiology and Cardiovascular Medicine, business, Body mass index, Demography

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8849b4ffdff48f0d6d33ec8eaf6997fTest
https://doi.org/10.1097/00004872-200018080-00002Test

المؤلفون: Burton, PR, Hansell, AL, Fortier, I, Manolio, TA, Khoury, MJ, Little, J, Elliott, P

المصدر: PubMed ; http://www.ncbi.nlm.nih.gov/pubmedTest/

مصطلحات موضوعية: Adult, Aged, Biological Specimen Banks, Case-Control Studies, Chronic Disease, Disease, Female, Genetic Predisposition to Disease, Genomics, Humans, Life Style, Male, Middle Aged, Research Design, Sample Size

وصف الملف: metadata

العلاقة: INT J EPIDEMIOL, 2009, 38 (1), pp. 263-273; http://hdl.handle.net/2381/16644Test; dyn147

الإتاحة: https://doi.org/10.1093/ije/dyn147Test
http://hdl.handle.net/2381/16644Test

المؤلفون: Higgins, JPT, Thompson, SG, Little, J, Ioannidis, JPA, Salanti, G, Bray, MS, Manolio, TA, Smeeth, L, Sterne, JA, Lewis, SJ, Anagnostelis, B, Butterworth, AS, Danesh, J, Sanderson, S, Dezateux, C, Gallacher, JE, Gwinn, M, Khoury, MJ, Minelli, C, Pharoah, PD, Smith, LA, Taioli, E, Thompson, JR, Walker, N, Zimmern, RL

المصدر: Scopus ; http://www.scopus.com/home.urlTest

وصف الملف: metadata

العلاقة: AMERICAN JOURNAL OF EPIDEMIOLOGY, 2007, 166 (8), pp. 863-866; http://hdl.handle.net/2381/16307Test

الإتاحة: https://doi.org/10.1093/aje/kwm248Test
http://hdl.handle.net/2381/16307Test

المؤلفون: Burton, PR, Hansell, AL, Fortier, I, Manolio, TA, Khoury, MJ, Little, J, Elliott, P

المصدر: 273 ; 263

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Public, Environmental & Occupational Health, SCI, Human genome epidemiology, biobank, sample size, statistical power, simulation studies, measurement error, reliability, aetiological heterogeneity, GENE-DISEASE ASSOCIATIONS, FACTOR-H POLYMORPHISM, WIDE ASSOCIATION, MENDELIAN RANDOMIZATION, MACULAR DEGENERATION, COMPLEX DISEASES, COMMON DISEASES, SUSCEPTIBILITY LOCI, COLORECTAL-CANCER, PROSTATE-CANCER, Adult, Aged, Biological Specimen Banks, Case-Control Studies, Chronic Disease, Disease, Female

العلاقة: International Journal of Epidemiology; http://hdl.handle.net/10044/1/52108Test; https://dx.doi.org/10.1093/ije/dyn147Test

الإتاحة: https://doi.org/10.1093/ije/dyn147Test
http://hdl.handle.net/10044/1/52108Test

المؤلفون: Higgins, JPT, Little, J, Ioannidis, JPA, Bray, MS, Manolio, TA, Smeeth, L, Sterne, J, Anagnostelis, B, Butterworth, AS, Danesh, J, Dezateux, C, Gallacher, JE, Gwinn, M, Lewis, SJ, Minelli, C, Pharoah, PD, Salanti, G, Sanderson, S, Smith, LA, Taioli, E, Thompson, JR, Thompson, SG, Walker, N, Zimmern, RL, Khoury, MJ

المصدر: Higgins , JPT , Little , J , Ioannidis , JPA , Bray , MS , Manolio , TA , Smeeth , L , Sterne , J , Anagnostelis , B , Butterworth , AS , Danesh , J , Dezateux , C , Gallacher , JE , Gwinn , M , Lewis , SJ , Minelli , C , Pharoah , PD , Salanti , G , Sanderson , S , Smith , LA , Taioli , E , Thompson , JR , Thompson , SG , Walker , N , Zimmern , RL & Khoury , MJ ....

الإتاحة: https://doi.org/10.1093/aje/kwm248Test
https://hdl.handle.net/1983/117045e1-56c1-418b-9698-707ea222fa6cTest
https://research-information.bris.ac.uk/en/publications/117045e1-56c1-418b-9698-707ea222fa6cTest
http://aje.oxfordjournals.org/cgi/reprint/166/8/863?maxtoshow=&hits=10&RESULTFORMAT=1&andorexacttitle=and&andorexacttitleabs=and&andorexactfulltext=and&searchid=1&FIRSTINDEX=0&sortspec=relevance&volume=166&firstpage=863&resourcetype=HWCITTest