المؤلفون: Gallagher, Renata, Ferdinandusse, S, Friederich, MW, Burlina, A, Ruiter, JPN, Coughlin, CR, Dishop, MK, Gallagher, RC, Bedoyan, JK, Vaz, FM, Waterham, HR

الوصول الحر: https://escholarship.org/uc/item/1sv4j5jfTest

المؤلفون: Coughlin, CR, Tseng, LA, Abdenur, JE, Ashmore, C, Boemer, F, Bok, LA, Boyer, M, Buhas, D, Clayton, PT, Das, A, Dekker, H, Evangeliou, A, Feillet, F, Footitt, EJ, Gospe, SM, Hartmann, H, Kara, M, Kristensen, E, Lee, J, Lilje, R, Longo, N, Lunsing, RJ, Mills, P, Papadopoulou, MT, Pearl, PL, Piazzon, F, Plecko, B, Saini, AG, Santra, S, Sjarif, DR, Stockler-Ipsiroglu, S, Striano, P, Van Hove, JLK, Verhoeven-Duif, NM, Wijburg, FA, Zuberi, SM, van Karnebeek, CDM

المصدر: Journal of Inherited Metabolic Disease , 44 (1) pp. 178-192. (2021)

مصطلحات موضوعية: ALDH7A1, Alpha aminoadipic semialdehyde, Consensus guidelines, Pyridoxine-dependent epilepsy, Pyridoxine-responsive seizures

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10115756/1/jimd.12332.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10115756Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10115756/1/jimd.12332.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10115756Test/

المؤلفون: Wortmann, SB, Chen, MA, Colombo, R, Pontoglio, A, Alhaddad, B, Botto, LD, Yuzyuk, T, Coughlin, CR, Descartes, M, Grűnewald, S, Maranda, B, Mills, PB, Pitt, J, Potente, C, Rodenburg, R, Kluijtmans, LA, Sampath, S, Pai, EF, Wevers, RA, Tiller, GE, and additional individual contributors, .

المصدر: Journal of Inherited Metabolic Disease , 40 (3) pp. 423-431. (2017)

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/1543075/1/art%253A10.1007%252Fs10545-017-0015-9.pdfTest; https://discovery.ucl.ac.uk/id/eprint/1543075Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/1543075/1/art%253A10.1007%252Fs10545-017-0015-9.pdfTest
https://discovery.ucl.ac.uk/id/eprint/1543075Test/

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: Kranick SM, Ganesh J, Coughlin CR 2nd, Licht DJ, Kranick, Sarah M, Ganesh, Jaya, Coughlin, Curtis R 2nd, Licht, Daniel J

المصدر: Neurology; 9/15/2009, Vol. 73 Issue 11, pe54-6, 1p

المؤلفون: Coughlin, Cristy

مرشدي الرسالة: Anderson, Cindy

مصطلحات موضوعية: alternating treatments design, applied behavior analysis, classroom management, delayed reinforcement, group contingency, random selection of reinforcers

الإتاحة: http://hdl.handle.net/1794/12396Test