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1دورية أكاديمية
المؤلفون: Cogne, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjold, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Sapp, JC, Zyskind, J, Holla, OL, Bedoukian, E, Filippini, F, Guimier, A, Picard, A, Busk, OL, Punetha, J, Pfundt, R, Lindstrand, A, Nordgren, A, Kalb, F, Desai, M, Ebanks, AH, Jhangiani, SN, Dewan, T, Akdemir, ZHC, Telegrafi, A, Zackai, EH, Begtrup, A, Song, XF, Toutain, A, Wentzensen, IM, Odent, S, Bonneau, D, Latypova, X, Deb, W, Redon, S, Bilan, F, Legendre, M, Troyer, C, Whitlock, K, Caluseriu, O, Murphree, MI, Pichurin, PN, Agre, K, Gavrilova, R, Rinne, T, Park, M, Shain, C, Heinzen, EL, Xiao, R, Amiel, J, Lyonnet, S, Isidor, B, Biesecker, LG, Lowenstein, D, Posey, JE, Denomme-Pichon, AS, Ferec, C, Yang, XJ, Rosenfeld, JA, Gilbert-Dussardier, B, Audebert-Bellanger, S, Redon, R, Stessman, HAF, Nellaker, C, Yang, YP, Lupski, JR, Goldstein, DB, Eichler, EE, Bolduc, F, Bezieau, S, Kury, S, Campeau, PM
المصدر: American journal of human genetics. 104(3):530-541
مصطلحات موضوعية: Medicin och hälsovetenskap
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2دورية أكاديمية
المؤلفون: Stessman, HAF, Willemsen, MH, Fenckova, M, Penn, O, Hoischen, A, Xiong, B, Wang, TY, Hoekzema, K, Vives, L, Voge, I, Brunner, HG, van der Burgt, I, Ockeloen, CW, Schuurs-Hoeijmakers, JH, Wassink-Ruiter, JSK, Stumpel, C, Stevens, SJC, Vles, HS, Marcelis, CM, van Bokhoven, H, Cantagrel, V, Colleaux, L, Nicouleau, M, Lyonnet, S, Bernier, RA, Gerdts, J, Coe, BP, Romano, C, Alberti, A, Grillo, L, Scuderi, C, Nordenskjold, M, Kvarnung, M, Guo, H, Xia, K, Piton, A, Gerard, B, Genevieve, D, Delobel, B, Lehalle, D, Perrin, L, Prieur, F, Thevenon, J, Gecz, J, Shaw, M, Pfundt, R, Keren, B, Jacquette, A, Schenck, A, Eichler, EE, Kleefstra, Tz
المصدر: American journal of human genetics. 98(3):541-552
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Sheppard, SE, Bryant, L, Wickramasekara, RN, Vaccaro, C, Robertson, B, Hallgren, J, Hulen, J, Watson, CJ, Faundes, V, Duffourd, Y, Lee, P, Simon, MC, de la Cruz, X, Padilla, N, Flores-Mendez, M, Akizu, N, Smiler, J, Pellegrino Da Silva, R, Li, D, March, M, Diaz-Rosado, A, Peixoto de Barcelos, I, Choa, ZX, Lim, CY, Dubourg, C, Journel, H, Demurger, F, Mulhern, M, Akman, C, Lippa, N, Andrews, M, Baldridge, D, Constantino, J, van Haeringen, A, Snoeck-Streef, I, Chow, P, Hing, A, Graham, JM, Au, M, Faivre, L, Shen, W, Mao, R, Palumbos, J, Viskochil, D, Gahl, W, Tifft, C, Macnamara, E, Hauser, N, Miller, R, Maffeo, J, Afenjar, A, Doummar, D, Keren, B, Arn, P, Macklin-Mantia, S, Meerschaut, I, Callewaert, B, Reis, A, Zweier, C, Brewer, C, Saggar, A, Smeland, MF, Kumar, A, Elmslie, F, Deshpande, C, Nizon, M, Cogne, B, van Ierland, Y, Wilke, M, van Slegtenhorst, M, Koudijs, S, Chen, JY, Dredge, D, Pier, D, Wortmann, S, Kamsteeg, E-J, Koch, J, Haynes, D, Pollack, L, Titheradge, H, Ranguin, K, Denommé-Pichon, A-S, Weber, S, Pérez de la Fuente, R, Sánchez Del Pozo, J, Lezana Rosales, JM, Joset, P, Steindl, K, Rauch, A, Mei, D, Mari, F, Guerrini, R, Lespinasse, J, Tran Mau-Them, F, Philippe, C, Dauriat, B, Raymond, L, Moutton, S, Cueto-González, AM, Tan, TY, Mignot, C, Grotto, S, Renaldo, F, Drivas, TG, Hennessy, L, Raper, A, Parenti, I, Kaiser, FJ, Kuechler, A, Busk, ØL, Islam, L, Siedlik, JA, Henderson, LB, Juusola, J, Person, R, Schnur, RE, Vitobello, A, Banka, S, Bhoj, EJ, Stessman, HAF
وصف الملف: application/pdf; application/zip
العلاقة: https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdfTest; https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zipTest; Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; et al. Sheppard, SE; Bryant, L; Wickramasekara, RN; Vaccaro, C; Robertson, B; Hallgren, J; Hulen, J; Watson, CJ; Faundes, V; Duffourd, Y; Lee, P; Simon, MC; de la Cruz, X; Padilla, N; Flores-Mendez, M; Akizu, N; Smiler, J; Pellegrino Da Silva, R; Li, D; March, M; Diaz-Rosado, A; Peixoto de Barcelos, I; Choa, ZX; Lim, CY; Dubourg, C; Journel, H; Demurger, F; Mulhern, M; Akman, C; Lippa, N; Andrews, M; Baldridge, D; Constantino, J; van Haeringen, A; Snoeck-Streef, I; Chow, P; Hing, A; Graham, JM; Au, M; Faivre, L; Shen, W; Mao, R; Palumbos, J; Viskochil, D; Gahl, W; Tifft, C; Macnamara, E; Hauser, N; Miller, R; Maffeo, J; Afenjar, A; Doummar, D; Keren, B; Arn, P; Macklin-Mantia, S; Meerschaut, I; Callewaert, B; Reis, A; Zweier, C; Brewer, C; Saggar, A; Smeland, MF; Kumar, A; Elmslie, F; Deshpande, C; Nizon, M; Cogne, B; van Ierland, Y; Wilke, M; van Slegtenhorst, M; Koudijs, S; Chen, JY; Dredge, D; Pier, D; Wortmann, S; Kamsteeg, E-J; Koch, J; Haynes, D; Pollack, L; Titheradge, H; Ranguin, K; Denommé-Pichon, A-S; Weber, S; Pérez de la Fuente, R; Sánchez Del Pozo, J; Lezana Rosales, JM; Joset, P; Steindl, K; Rauch, A; Mei, D; Mari, F; Guerrini, R; Lespinasse, J; Tran Mau-Them, F; Philippe, C; Dauriat, B; Raymond, L; Moutton, S; Cueto-González, AM; Tan, TY; Mignot, C; Grotto, S; Renaldo, F; Drivas, TG; Hennessy, L; Raper, A; Parenti, I; Kaiser, FJ; Kuechler, A; Busk, ØL; Islam, L; Siedlik, JA; Henderson, LB; Juusola, J; Person, R; Schnur, RE; Vitobello, A; Banka, S; Bhoj, EJ; Stessman, HAF (2023) Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice. Sci Adv, 9 (10). eade1463. ISSN 2375-2548 https://doi.org/10.1126/sciadv.ade1463Test SGUL Authors: Elmslie, Frances
الإتاحة: https://doi.org/10.1126/sciadv.ade1463Test
https://openaccess.sgul.ac.uk/id/eprint/115477Test/
https://openaccess.sgul.ac.uk/id/eprint/115477/1/sciadv.ade1463.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115477/6/sciadv.ade1463_sm.pdfTest
https://openaccess.sgul.ac.uk/id/eprint/115477/11/sciadv.ade1463_tables_s1_and_s5_to_s10.zipTest -
4دورية أكاديمية
المؤلفون: Geisheker, MR, Heymann, G, Wang, TY, Coe, BP, Turner, TN, Stessman, HAF, Hoekzema, K, Kvarnung, M, Shaw, M, Friend, K, Liebelt, J, Barnett, C, Thompson, EM, Haan, E, Guo, H, Anderlid, BM, Nordgren, A, Lindstrand, A, Vandeweyer, G, Alberti, A, Avola, E, Vinci, M, Giusto, S, Pramparo, T, Pierce, K, Nalabolu, S, Michaelson, JJ, Sedlacek, Z, Santen, GWE, Peeters, H, Hakonarson, H, Courchesne, E, Romano, C, Kooy, RF, Bernier, RA, Nordenskjold, M, Gecz, J, Xia, K, Zweifel, LS, Eichler, EE
المصدر: Nature neuroscience. 20(8):1043
مصطلحات موضوعية: Medicin och hälsovetenskap
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5دورية أكاديمية
المؤلفون: Stessman, HAF, Xiong, B, Coe, BP, Wang, TY, Hoekzema, K, Fenckova, M, Kvarnung, M, Gerdts, J, Trinh, S, Cosemans, N, Vives, L, Lin, J, Turner, TN, Santen, G, Ruivenkamp, C, Kriek, M, van Haeringen, A, Aten, E, Friend, K, Liebelt, J, Barnett, C, Haan, E, Shaw, M, Gecz, J, Anderlid, BM, Nordgren, A, Lindstrand, A, Schwartz, C, Kooy, RF, Vandeweyer, G, Helsmoortel, C, Romano, C, Alberti, A, Vinci, M, Avola, E, Giusto, S, Courchesne, E, Pramparo, T, Pierce, K, Nalabolu, S, Amaral, DG, Scheffer, IE, Delatycki, MB, Lockhart, PJ, Hormozdiari, F, Harich, B, Castells-Nobau, A, Xia, K, Peeters, H, Nordenskjold, M, Schenck, A, Bernier, RA, Eichler, EE
المصدر: Nature genetics. 49(4):515
مصطلحات موضوعية: Medicin och hälsovetenskap
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6دورية أكاديمية
المؤلفون: Cheng, H, Dharmadhikari, AV, Varland, S, Ma, N, Domingo, D, Kleyner, R, Rope, AF, Yoon, M, Stray-Pedersen, A, Posey, JE, Crews, SR, Eldomery, MK, Akdemir, ZC, Lewis, AM, Sutton, VR, Rosenfeld, JA, Conboy, E, Agre, K, Xia, F, Walkiewicz, M, Longoni, M, High, FA, van Slegtenhorst, MA, Mancini, GMS, Finnila, CR, van Haeringen, A, den Hollander, N, Ruivenkamp, C, Naidu, S, Mahida, S, Palmer, EE, Murray, L, Lim, D, Jayakar, P, Parker, MJ, Giusto, S, Stracuzzi, E, Romano, C, Beighley, JS, Bernier, RA, Küry, S, Nizon, M, Corbett, MA, Shaw, M, Gardner, A, Barnett, C, Armstrong, R, Kassahn, KS, Van Dijck, A, Vandeweyer, G, Kleefstra, T, Schieving, J, Jongmans, MJ, de Vries, BBA, Pfundt, R, Kerr, B, Rojas, SK, Boycott, KM, Person, R, Willaert, R, Eichler, EE, Kooy, RF, Yang, Y, Wu, JC, Lupski, JR, Arnesen, T, Cooper, GM, Chung, WK, Gecz, J, Stessman, HAF, Meng, L, Lyon, GJ, Palmer, Elizabeth
المصدر: urn:ISSN:0002-9297 ; urn:ISSN:1537-6605 ; American Journal of Human Genetics, 102, 5, 985-994
مصطلحات موضوعية: Biotechnology, Genetics, Pediatric, Congenital Structural Anomalies, Intellectual and Developmental Disabilities (IDD), Clinical Research, Autism, Brain Disorders, Mental Health, Human Genome, 2.1 Biological and endogenous factors, 2 Aetiology, Abnormalities, Multiple, Adolescent, Adult, Autism Spectrum Disorder, Cell Line, Child, Exons, Female, Gene Expression Regulation, Genetic Predisposition to Disease, Genetic Variation, Humans, Intellectual Disability, Male, Middle Aged, Mutation, N-Terminal Acetyltransferase A
وصف الملف: application/pdf
العلاقة: http://hdl.handle.net/1959.4/unsworks_61912Test; https://unsworks.unsw.edu.au/bitstreams/28630ebc-7263-4783-bd7f-0782492d3e58/downloadTest; https://doi.org/10.1016/j.ajhg.2018.03.004Test
الإتاحة: https://doi.org/10.1016/j.ajhg.2018.03.004Test
http://hdl.handle.net/1959.4/unsworks_61912Test
https://unsworks.unsw.edu.au/bitstreams/28630ebc-7263-4783-bd7f-0782492d3e58/downloadTest -
7دورية أكاديمية
المؤلفون: Kury, S, van Woerden, Geeske, Besnard, T, Proietti Onori, Martina, Latypova, X, Towne, MC, Cho, M T, Prescott, TE, Ploeg, MA (Melissa), Sanders, S, Stessman, HAF, Pujol, A, Ben, D, Robak, LA, Bernstein, JA, Denomme-Pichon, AS, Lesca, G, Sellars, EA, Berg, J, Carre, W, Busk, OL, van Bon, BWM, Waugh, JL, Deardorff, M, Hoganson, GE, Bosanko, KB, Johnson, DS, Dabir, T, Holla, OL, Sarkar, A, Tveten, K, de Bellescize, J, Braathen, GJ, Terhal, PA, Grange, DK, van Haeringen, A, Lam, C, Mirzaa, G, Burton, J, Bhoj, EJ, Douglas, J, Santani, AB, Nesbitt, AI, Helbig, KL, Andrews, MV, Begtrup, A, Tang, S, van Gassen, K L I, Juusola, J, Foss, K
المصدر: Kury , S , van Woerden , G , Besnard , T , Proietti Onori , M , Latypova , X , Towne , MC , Cho , M T , Prescott , TE , Ploeg , MA , Sanders , S , Stessman , HAF , Pujol , A , Ben , D , Robak , LA , Bernstein , JA , Denomme-Pichon , AS , Lesca , G , Sellars , EA , Berg , J , Carre , W , Busk , OL , van Bon , BWM , Waugh , JL , Deardorff , M ....
الإتاحة: https://doi.org/10.1016/j.ajhg.2017.10.003Test
https://pure.eur.nl/en/publications/d16fc348-b361-4fba-8f5d-a173e564f408Test
http://hdl.handle.net/1765/102880Test