المؤلفون: Johnson, BV, Kumar, R, Oishi, S, Alexander, S, Kasherman, M, Vega, MS, Ivancevic, A, Gardner, A, Domingo, D, Corbett, M, Parnell, E, Yoon, S, Oh, T, Lines, M, Lefroy, H, Kini, U, Van Allen, M, Grønborg, S, Mercier, S, Küry, S, Bézieau, S, Pasquier, L, Raynaud, M, Afenjar, A, Billette de Villemeur, T, Keren, B, Désir, J, Van Maldergem, L, Marangoni, M, Dikow, N, Koolen, DA, VanHasselt, PM, Weiss, M, Zwijnenburg, P, Sa, J, Reis, CF, López-Otín, C, Santiago-Fernández, O, Fernández-Jaén, A, Rauch, A, Steindl, K, Joset, P, Goldstein, A, Madan-Khetarpal, S, Infante, E, Zackai, E, Mcdougall, C, Narayanan, V, Ramsey, K, Mercimek-Andrews, S, Pena, L, Shashi, V, Schoch, K, Sullivan, JA, Acosta, MT, Adams, DR, Aday, A, Alejandro, ME, Allard, P, Ashley, EA, Azamian, MS, Bacino, CA, Bademci, G, Baker, E, Balasubramanyam, A, Baldridge, D, Barbouth, D, Batzli, GF, Beggs, AH, Bellen, HJ, Bernstein, JA, Berry, GT, Bican, A, Bick, DP, Birch, CL, Bivona, S, Bonnenmann, C, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, Brokamp, E, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Butte, MJ, Carrasquillo, O, Peter Chang, TC, Chao, HT, Clark, GD, Coakley, TR, Cobban, LA, Cogan, JD, Cole, FS, Colley, HA, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Wood, Stephen

مصطلحات موضوعية: Biological sciences, Biomedical and clinical sciences, Clinical sciences, Neurosciences, Psychology

العلاقة: Biological Psychiatry; Johnson, BV; Kumar, R; Oishi, S; Alexander, S; Kasherman, M; Vega, MS; Ivancevic, A; Gardner, A; Domingo, D; Corbett, M; Parnell, E; Yoon, S; Oh, T; Lines, M; Lefroy, H; Kini, U; Van Allen, M; Grønborg, S; Mercier, S; Küry, S; Bézieau, S; Pasquier, L; Raynaud, M; Afenjar, A; Billette de Villemeur, T; Keren, B; Désir, J; Van Maldergem, L; Marangoni, M; Dikow, N; Koolen, DA; VanHasselt, PM; Weiss, M; Zwijnenburg, P; Sa, J; Reis, CF; López-Otín, C; Santiago-Fernández, O; Fernández-Jaén, A; Rauch, A; Steindl, K; Joset, P; Goldstein, A; Madan-Khetarpal, S; Infante, E; Zackai, E; Mcdougall, C; Narayanan, V; Ramsey, K; Mercimek-Andrews, S; Pena, L; Shashi, V; Schoch, K; Sullivan, JA; Acosta, MT; Adams, DR; Aday, A; Alejandro, ME; Allard, P; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G; Baker, E; Balasubramanyam, A; Baldridge, D; Barbouth, D; Batzli, GF; Beggs, AH; Bellen, HJ; Bernstein, JA; Berry, GT; Bican, A; Bick, DP; Birch, CL; Bivona, S; Bonnenmann, C; Bonner, D; Boone, BE; Bostwick, BL; Briere, LC; Brokamp, E; Brown, DM; Brush, M; Burke, EA; Burrage, LC; Butte, MJ; Carrasquillo, O; Peter Chang, TC; Chao, HT; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Cole, FS; Colley, HA; Cooper, CM; Cope, H; Craigen, WJ; D'Souza, P, Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling, Biological Psychiatry, 2019; http://hdl.handle.net/10072/386708Test

الإتاحة: https://doi.org/10.1016/j.biopsych.2019.05.028Test
http://hdl.handle.net/10072/386708Test

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: Rehm, Hl, Berg, Js, Brooks, Ld, Bustamante, Cd, Evans, Jp, Landrum, Mj, Ledbetter, Dh, Maglott, Dr, Martin, Cl, Nussbaum, Rl, Plon, Se, Ramos, Em, Sherry, St, Watson, Ms, Andersen, E, Aradhya, S, Aronson, S, Ashley, E, Azzariti, D, Babb, L, Bale, S, Bell, G, Berg, J, Berger, M, Biesecker, Lg, Birsoy, O, Bizon, C, Brandon, R, Broeckel, U, Brothers, Kb, Brudno, M, Buchanan, A, Burgess, T, Burnside, R, Bustamante, C, Butte, A, Caleshu, C, Care, M, Carpenter, Ml, Carter, P, Cherry, J, Clark, E, Coakley, Tr, Couch, Fj, Coughlin, Cr, Craigen, Wj, Daily, R, Dalton, K, Daneshjou, R, Das, S, De Backer, J, Denny, Jc, Dietz, H, Dobrowolski, Sf, Dwight, S, Ehrlich, A, Eilbeck, K, Enns, G, Faucett, W, Feigenbaum, A, Feng, X, Feolo, M, Ferber, Mj, Freimuth, R, Funke, Bh, Ghosh, R, Giovanni, M, Goddard, K, Goehringer, S, Gollob, M, Green, Rc, Greenblatt, M, Hammond, N, Hamosh, A, Harris, M, Harrison, S, Heale, B, Hegde, M, Hercher, L, Herriges, J, Hershberger, R, Hindorff, L, Hong, B, Hudgins, L, Hunter, Je, Ingles, J, Ioannidis, N, Irving, S, Jackson, A, Jamal, Sm, Janze, A, Jongbloed, J, Joshi, S, Kanagawa, Km, Kantarci, S, Kaufman, D, Kearney, H, Kelly, M, Khoury, Mj, Kirkpatrick, B, Klee, E, Klein, Te, Krautscheid, P, Krier, Jb, Krotoski, D, Kulkarni, S, Landrum, M, Lebo, M, Ledbetter, D, Lee, J, Lee, C, Lee, K, Levy, Hp, Liu, K, Loeys, B, Lyon, E, Lyon, M, Madhavan, S, Maglott, D, Manolio, T, Mao, R, Maye, U, Mcgarvey, P, Mckenna, B, Mcleod, Hl, Mcmanus, K, Messiaen, L, Milewicz, D, Milko, L, Miller, D, Milosavljevic, A, Mitkowski, J, Montgomery, Sb, Morales, A, Muessig, K, Murray, Mf, Nagarajan, R, Nandi, P, Nathanson, Kl, Nelson, T, Niehaus, A, Norwig Eastaugh, E, Novelli, V, Nussbaum, R, O'Daniel, J, O'Fallon, B, Oasan, M, Offit, K, Ormond, K, Overby, Cl, Paithankar, S, Pasquali, M, Peay, Hl, Pineda Alvarez, D, Piper, Ma, Rashkin, M, Rehm, H, Reithmaier, D, Relling, Mv, Riggs, Er, Riley, G, Risheg, H, Robinson, P, Roche, Mi, Rodriguez, Ll, Rubinstein, W, Rychkova, A, Rynearson, S, Sam, Cm, Santani, A, Sarkar, In, Savage, Sa, Schloss, Ja, Schmitt, C, Schully, Sd, Scott, A, Scott, S, Semsarian, C, Serrano, Ma, Shaw, C, Sherry, S, Sikora Wohlfield, W, Sirota, M, Slavotinek, A, Smith, Me, Smith Packard, B, Sneddon, Tp, Sobriera, N, South, S, Speevak, M, Stavropoulos, J, Steiner, Rd, Stosic, M, Strande, N, Sturm, A, Tan, C, Tanaka, F, Thorland, E, Tinker, S, Uhlmann, Wr, Urv, T, Valle, D, Van Vooren, S, van Tintelen, P, Varugheese, M, Vaydylevich, Y, Vincent, L, Wain, K, Walton, S, Watson, M, Weaver, M, Webber, E, Whirl Carrillo, M, Wilde, A, Wiley, K, Wilhelmsen, K, Willems, P, Williams, Ms, Wise, Al, Zellner, PRIORI, SILVIA GIULIANA

المساهمون: Rehm, Hl, Berg, J, Brooks, Ld, Bustamante, Cd, Evans, Jp, Landrum, Mj, Ledbetter, Dh, Maglott, Dr, Martin, Cl, Nussbaum, Rl, Plon, Se, Ramos, Em, Sherry, St, Watson, M, Andersen, E, Aradhya, S, Aronson, S, Ashley, E, Azzariti, D, Babb, L, Bale, S, Bell, G, Berger, M, Biesecker, Lg, Birsoy, O, Bizon, C, Brandon, R, Broeckel, U, Brothers, Kb, Brudno, M, Buchanan, A, Burgess, T, Burnside, R, Bustamante, C, Butte, A, Caleshu, C, Care, M, Carpenter, Ml, Carter, P, Cherry, J, Clark, E, Coakley, Tr, Couch, Fj, Coughlin, Cr, Craigen, Wj, Daily, R, Dalton, K, Daneshjou, R, Das, S, De Backer, J, Denny, Jc, Dietz, H, Dobrowolski, Sf, Dwight, S, Ehrlich, A, Eilbeck, K, Enns, G, Faucett, W, Feigenbaum, A, Feng, X, Feolo, M, Ferber, Mj, Freimuth, R, Funke, Bh, Ghosh, R, Giovanni, M, Goddard, K, Goehringer, S, Gollob, M, Green, Rc, Greenblatt, M, Hammond, N, Hamosh, A, Harris, M, Harrison, S, Heale, B, Hegde, M, Hercher, L, Herriges, J, Hershberger, R, Hindorff, L, Hong, B, Hudgins, L, Hunter, Je, Ingles, J, Ioannidis, N, Irving, S, Jackson, A, Jamal, Sm, Janze, A, Jongbloed, J, Joshi, S, Kanagawa, Km, Kantarci, S, Kaufman, D, Kearney, H, Kelly, M

مصطلحات موضوعية: Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genetic Testing, Human, National Library of Medicine (U.S.), United State, Databases, Genetic, Genetic Variation, Genome

وصف الملف: STAMPA

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26014595; info:eu-repo/semantics/altIdentifier/wos/WOS:000355955100013; volume:372; issue:23; firstpage:2235; lastpage:2242; numberofpages:8; journal:NEW ENGLAND JOURNAL OF MEDICINE; http://hdl.handle.net/11571/1108244Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84930526399

الإتاحة: https://doi.org/10.1056/NEJMsr1406261Test
http://hdl.handle.net/11571/1108244Test

المؤلفون: Coakley, Tricia L.

المصدر: Theses and Dissertations--Earth and Environmental Sciences.

مصطلحات موضوعية: fecal source tracking, Bacteroides, Wolf Run watershed, E. coli, AC/TC, Earth Sciences, Hydrology

وصف الملف: application/pdf

الإتاحة: http://uknowledge.uky.edu/ees_etds/4Test
http://uknowledge.uky.edu/cgi/viewcontent.cgi?article=1003&context=ees_etdsTest