المؤلفون: Van Dijck, A, Vulto-van Silfhout, AT, Cappuyns, E, van der Werf, IM, Mancini, GM, Tzschach, A, Bernier, R, Gozes, I, Eichler, EE, Romano, C, Lindstrand, A, Nordgren, A, Kvarnung, M, Kleefstra, T, de Vries, BBA, Kury, S, Rosenfeld, JA, Meuwissen, ME, Vandeweyer, G, Kooy, RF, Bakshi, M, Wilson, M, Berman, Y, Dickson, R, Fransen, E, Helsmoortel, C, Van den Ende, J, Van der Aa, N, van de Wijdeven, MJ, Rosenblum, J, Monteiro, F, Kok, F, Quercia, N, Bowdin, S, Dyment, D, Chitayat, D, Alkhunaizi, E, Boonen, SE, Keren, B, Jacquette, A, Faivre, L, Bezieau, S, Isidor, B, Riess, A, Moog, U, Lynch, SA, McVeigh, T, Elpeleg, O, Smeland, MF, Fannemel, M, van Haeringen, A, Maas, SM, Veenstra-Knol, HE, Schouten, M, Willemsen, MH, Marcelis, CL, Ockeloen, C, van der Burgt, I, Feenstra, I, van der Smagt, J, Jezela-Stanek, A, Krajewska-Walasek, M, Gonzalez-Lamuno, D, Anderlid, BM, Malmgren, H, Nordenskjold, M, Clement, E, Hurst, J, Metcalfe, K, Mansour, S, Lachlan, K, Clayton-Smith, J, Hendon, LG, Abdulrahman, OA, Morrow, E, McMillan, C, Gerdts, J, Peeden, J, Vergano, SAS, Valentino, C, Chung, WK, Ozmore, JR, Bedrosian-Sermone, S, Dennis, A, Treat, K, Hughes, SS, Safina, N, Le Pichon, JB, McGuire, M, Infante, E, Madan-Khetarpal, S, Desai, S, Benke, P, Krokosky, A, Cristian, I, Baker, L, Gripp, K, Stessman, HA, Eichenberger, J, Jayakar, P, Pizzino, A, Manning, MA, Slattery, L

المصدر: Biological psychiatry. 85(4):287-297

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:140073087Test

المؤلفون: Baynam, GS, Groft, S, van der Westhuizen, FH, Gassman, SD, du Plessis, K, Coles, EP, Selebatso, E, Selebatso, M, Gaobinelwe, B, Selebatso, T, Joel, D, Llera, VA, Vorster, BC, Wuebbels, B, Djoudalbaye, B, Austin, CP, Kumuthini, J, Forman, J, Kaufmann, P, Chipeta, J, Gavhed, D, Larsson, A, Stojiljkovic, M, Nordgren, A, Roldan, EJA, Taruscio, D, Wong-Rieger, D, Nowak, K, Bilkey, GA, Easteal, S, Bowdin, S, Reichardt, JKV, Beltran, S, Kosaki, K, van Karnebeek, CDM, Gong, MC, Zhang, SY, Mehrian-Shai, R, Adams, DR, Puri, RD, Zhang, F, Pachter, N, Muenke, M, Nellaker, C, Gahl, WA, Cederroth, H, Broley, S, Schoonen, M, Boycott, KM, Posada, M

المصدر: Nature genetics. 52(1):21-26

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:142800951Test

المؤلفون: Anderson, J A, Meyn, M S, Shuman, C, Shaul, R Zlotnik, Mantella, L E, Szego, M J, Bowdin, S, Monfared, N, Hayeems, R Z

المصدر: Journal of Medical Ethics, 2017 Aug 01. 43(8), 535-539.

الوصول الحر: https://www.jstor.org/stable/44606618Test

المؤلفون: Perry, LD, Hogg, SL, Bowdin, S, Ambegaonkar, G, Parker, AP

المصدر: Archives of Disease in Childhood - Education and Practice (2021) (In press).

مصطلحات موضوعية: biochemistry, genetics, neurology

وصف الملف: text; image

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10118916/22/Perry_The_Efficient_Investigation_of_Infantile_and_Childhood_Epileptic_Encephalopathies_in_the_Era_of_Modern_Genomics%20-%20accepted%20ADC.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10118916/3/Supplementary%20table%201.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10118916/9/Supplementary%20table%202.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10118916/14/supplemental%20table%203.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10118916/28/Perry_figure%201%20ADC.jpgTest; https://discovery.ucl.ac.uk/id/eprint/10118916Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10118916/22/Perry_The_Efficient_Investigation_of_Infantile_and_Childhood_Epileptic_Encephalopathies_in_the_Era_of_Modern_Genomics%20-%20accepted%20ADC.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10118916/3/Supplementary%20table%201.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10118916/9/Supplementary%20table%202.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10118916/14/supplemental%20table%203.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10118916/28/Perry_figure%201%20ADC.jpgTest
https://discovery.ucl.ac.uk/id/eprint/10118916Test/

المؤلفون: Ganapathi, M., Matsuoka, L. S., March, M., Li, D., Brokamp, E., Benito-Sanz, S., White, S. M., Lachlan, K., Ahimaz, P., Sewda, A., Bastarache, L., Thomas-Wilson, A., Stoler, J. M., Bramswig, N. C., Baptista, J., Stals, K., Demurger, F., Cogne, B., Isidor, B., Bedeschi, M. F., Peron, A., Amiel, J., Zackai, E., Schacht, J. P., Iglesias, A. D., Morton, J., Schmetz, A., Seidel, V., Lucia, S., Baskin, S. M., Thiffault, I., Cogan, J. D., Gordon, C. T., Chung, W. K., Bowdin, S., Bhoj, E.

العلاقة: https://doi.org/10.1038/s41431-023-01434-5Test; Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, et al. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays. European journal of human genetics : EJHG. 2023.; European journal of human genetics; https://hdl.handle.net/11287/622951Test

الإتاحة: https://doi.org/10.1038/s41431-023-01434-5Test
https://hdl.handle.net/11287/622951Test

المؤلفون: French, CE, Delon, I, Dolling, H, Sanchis-Juan, A, Shamardina, O, Mégy, K, Abbs, S, Austin, T, Bowdin, S, Branco, RG, Firth, H, Tuna, S, Aitman, TJ, Ashford, S, Astle, WJ, Bennet, DL, Bleda, M, Carss, KJ, Chinnery, PF, Deevi, SVV, Fletcher, D, Gale, DP, Gräf, SF, Hu, F, James, R, Kasanicki, MA, Kingston, N, Koziell, AB, Allen, HL, Maher, ER, Markus, HS, Meacham, S, Morrell, NW, Penkett, CJ, Roberts, I, Smith, KGC, Stark, H, Stirrups, KE, Turro, E, Watkins, H, Williamson, C, Young, T, Bradley, JR, Ouwehand, WH, Raymond, FL, Agrawal, S, Armstrong, R, Beardsall, K, Belteki, G, Bohatschek, M, Broster, S, Campbell, R, Chaudhary, R, Costa, C, D’Amore, A, Fitzsimmons, A, Hague, J, Harley, J, Hoodbhoy, S, Kayani, R, Kelsall, W, Mehta, SG, O’Donnell, R, O’Hare, S, Ogilvy-Stuart, A, Papakostas, S, Park, SM, Parker, A, Pathan, N, Prapa, M, Sammut, A, Sandford, R, Schon, K, Singh, Y, Spike, K, Tavares, ALT, Wari-Pepple, D, Wong, HS, Woods, CG, Rowitch, DH

العلاقة: https://ora.ox.ac.uk/objects/uuid:af323912-359d-4fac-ab6c-9eb91fc0a7e6Test; https://doi.org/10.1007/s00134-019-05552-xTest

الإتاحة: https://doi.org/10.1007/s00134-019-05552-xTest
https://ora.ox.ac.uk/objects/uuid:af323912-359d-4fac-ab6c-9eb91fc0a7e6Test

المؤلفون: Kehar, M, Brandao, L, Bowdin, S, Cutz, E, Ling, S C, Ng, V

المصدر: Journal of the Canadian Association of Gastroenterology ; volume 1, issue suppl_1, page 357-358 ; ISSN 2515-2084 2515-2092

الإتاحة: https://doi.org/10.1093/jcag/gwy008.205Test
http://academic.oup.com/jcag/article-pdf/1/suppl_1/357/28510066/gwy008.205.pdfTest

المؤلفون: Mathew, J., Zahavich, L., Lafreniere‐Roula, M., Wilson, J., George, K., Benson, L., Bowdin, S., Mital, S.

المساهمون: Heart and Stroke Foundation of Canada

المصدر: Clinical Genetics ; volume 93, issue 2, page 310-319 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.13157Test

المؤلفون: Ouellette, A.C., Mathew, J., Manickaraj, A.K., Manase, G., Zahavich, L., Wilson, J., George, K., Benson, L., Bowdin, S., Mital, S.

المساهمون: Ted Rogers Centre for Heart Research, Heart and Stroke Foundation of Ontario Chair in Cardiovascular Science, University of Toronto Institute of Medical Sciences Summer Undergraduate Research Program

المصدر: Clinical Genetics ; volume 93, issue 1, page 33-40 ; ISSN 0009-9163 1399-0004

الإتاحة: https://doi.org/10.1111/cge.13024Test

المؤلفون: Fenwick, A, Bowdin, S, Klatt, R, Wilkie, A

العلاقة: https://ora.ox.ac.uk/objects/uuid:7a0757a2-fe56-42f0-8de1-aec1395b5b7bTest; https://doi.org/10.1186/1471-2350-12-122Test

الإتاحة: https://doi.org/10.1186/1471-2350-12-122Test
https://ora.ox.ac.uk/objects/uuid:7a0757a2-fe56-42f0-8de1-aec1395b5b7bTest