المؤلفون: Morison, LD, Meffert, E, Stampfer, M, Steiner-Wilke, I, Vollmer, B, Schulze, K, Briggs, T, Braden, R, Vogel, A, Thompson-Lake, D, Patel, C, Blair, E, Goel, H, Turner, S, Moog, U, Riess, A, Liegeois, F, Koolen, DA, Amor, DJ, Kleefstra, T, Fisher, SE, Zweier, C, Morgan, AT

المصدر: Journal of medical genetics. 60(6):597-607

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:151194588Test

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: Alcantara, D, Timms, AE, Gripp, K, Baker, L, Park, K, Collins, S, Cheng, C, Stewart, F, Mehta, SG, Saggar, A, Sztriha, L, Zombor, M, Caluseriu, O, Mesterman, R, Van Allen, MI, Jacquinet, A, Ygberg, S, Bernstein, JA, Wenger, AM, Guturu, H, Bejerano, G, Gomez-Ospina, N, Lehman, A, Alfei, E, Pantaleoni, C, Conti, V, Guerrini, R, Moog, U, Graham, JM, Hevner, R, Dobyns, WB, O'Driscoll, M, Mirzaa, GM

المصدر: Brain : a journal of neurology. 140(10):2610-2622

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:136965922Test

المؤلفون: Staufner, C., Peters, B., Wagner, M., Alameer, S., Barić, I., Broué, P., Bulut, D., Church, J.A., Crushell, E., Dalgıç, B., Das, A.M., Dick, A., Dikow, N., Dionisi-Vici, C., Distelmaier, F., Bozbulut, N.E., Feillet, F., Gonzales, E., Hadzic, N., Hauck, F., Hegarty, R., Hempel, M., Herget, T., Klein, C., Konstantopoulou, V., Kopajtich, R., Kuster, A., Laass, M.W., Lainka, E., Larson-Nath, C., Leibner, A., Lurz, E., Mayr, J.A., McKiernan, P.J., Mention, K., Moog, U., Mungan, N.O., Riedhammer, K.M., Santer, R., Palafoll, I.V., Vockley, J., Westphal, D.S., Wiedemann, A., Wortmann, S.B., Diwan, G.D., Russell, R.B., Prokisch, H., Garbade, S.F., Kölker, S., Hoffmann, G.F., Lenz, D.

المصدر: Genet. Med. 22, 610-621 (2020)

مصطلحات موضوعية: Nbas, Infantile Liver Failure Syndrome Type 2, Soph Syndrome, Acute Liver Failure, Ralf

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31761904; info:eu-repo/semantics/altIdentifier/wos/WOS:000518171700018; info:eu-repo/semantics/altIdentifier/isbn/1098-3600; info:eu-repo/semantics/; https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57419Test; urn:isbn:1098-3600; urn:issn:1530-0366; urn:issn:1098-3600

الإتاحة: https://doi.org/10.1038/s41436-019-0698-4Test
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=57419Test

المؤلفون: Künzer, K, Moog, U, Boden, K, Groten, T

المصدر: Geburtshilfe und Frauenheilkunde ; 12. Jahrestagung der Mitteldeutschen Gesellschaft für Frauenheilkunde und Geburtshilfe e.V. ; ISSN 1438-8804

الإتاحة: https://doi.org/10.1055/s-0038-1645917Test

المؤلفون: Moog, U., Wehrle, F., Donat, K., Köhler, H.

المصدر: Animal - science proceedings ; volume 14, issue 1, page 86-87 ; ISSN 2772-283X

مصطلحات موضوعية: Ocean Engineering, Safety, Risk, Reliability and Quality

الإتاحة: https://doi.org/10.1016/j.anscip.2023.01.120Test
https://api.elsevier.com/content/article/PII:S2772283X23001206?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2772283X23001206?httpAccept=text/plainTest

المؤلفون: Heinemann, L., Methner, U., Moog, U.

المصدر: Animal - science proceedings ; volume 14, issue 1, page 213 ; ISSN 2772-283X

مصطلحات موضوعية: Ocean Engineering, Safety, Risk, Reliability and Quality

الإتاحة: https://doi.org/10.1016/j.anscip.2023.01.286Test
https://api.elsevier.com/content/article/PII:S2772283X23002868?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S2772283X23002868?httpAccept=text/plainTest

المؤلفون: Chen, YC, Auer-Grumbach, M, Matsukawa, S, Zitzelsberger, M, Themistocleous, AC, Strom, TM, Samara, C, Moore, AW, Cho, LTY, Young, GT, Weiss, C, Schabhuttl, M, Stucka, R, Schmid, AB, Parman, Y, Graul-Neumann, L, Heinritz, W, Passarge, E, Watson, RM, Hertz, JM, Moog, U, Baumgartner, M, Valente, EM, Pereira, D, Restrepo, CM, Katona, I, Dusl, M, Stendel, C, Wieland, T, Stafford, F, Reimann, F, Von Au, K, Finke, C, Willems, PJ, Nahorski, MS, Shaikh, SS, Carvalho, OP, Nicholas, AK, Karbani, G, McAleer, MA, Cilio, MR, McHugh, JC, Murphy, SM, Irvine, AD, Jensen, UB, Windhager, R, Weis, J, Bergmann, C, Rautenstrauss, B, Baets, J, De Jonghe, P, Reilly, MM, Kropatsch, R, Kurth, I, Chrast, R, Michiue, T, Bennett, DLH, Woods, CG, Senderek, J

المصدر: Nature genetics. 47(7):803

مصطلحات موضوعية: Medicin och hälsovetenskap

الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:131562917Test

المؤلفون: Gennarino, VA, Palmer, EE, McDonell, LM, Wang, L, Adamski, CJ, Koire, A, See, L, Chen, CA, Schaaf, CP, Rosenfeld, JA, Panzer, JA, Moog, U, Hao, S, Bye, A, Kirk, EP, Stankiewicz, P, Breman, AM, McBride, A, Kandula, T, Dubbs, HA, Macintosh, R, Cardamone, M, Zhu, Y, Ying, K, Dias, KR, Cho, MT, Henderson, LB, Baskin, B, Morris, P, Tao, J, Cowley, MJ, Dinger, ME, Roscioli, T, Caluseriu, O, Suchowersky, O, Sachdev, RK, Lichtarge, O, Tang, J, Boycott, KM, Holder, JL, Zoghbi, HY, Palmer, Elizabeth

المصدر: urn:ISSN:0092-8674 ; urn:ISSN:1097-4172 ; Cell, 172, 5, 924-936.e11

مصطلحات موضوعية: Neurodegenerative, Rare Diseases, Genetics, Neurosciences, Brain Disorders, 2.1 Biological and endogenous factors, 2 Aetiology, Neurological, Adolescent, Adult, Age of Onset, Aged, 80 and over, Animals, Base Sequence, Child, Preschool, Developmental Disabilities, Evolution, Molecular, Female, Gene Deletion, Genetic Predisposition to Disease, HEK293 Cells, Haploinsufficiency, Humans, Infant, Male, Mice, Middle Aged

وصف الملف: application/pdf

العلاقة: http://purl.org/au-research/grants/nhmrc/APP1114963Test; http://hdl.handle.net/1959.4/unsworks_61598Test; https://unsworks.unsw.edu.au/bitstreams/8fabdd62-bcbd-495b-8851-467a76adfe43/downloadTest; https://doi.org/10.1016/j.cell.2018.02.006Test

الإتاحة: https://doi.org/10.1016/j.cell.2018.02.006Test
http://hdl.handle.net/1959.4/unsworks_61598Test
https://unsworks.unsw.edu.au/bitstreams/8fabdd62-bcbd-495b-8851-467a76adfe43/downloadTest

المؤلفون: Gernand, E., Lenz, H., Moog, U., Waβmuth, R.

المصدر: eISSN: 2363-9822

وصف الملف: application/pdf

العلاقة: https://aab.copernicus.org/articles/48/383/2005Test/

الإتاحة: https://doi.org/10.5194/aab-48-383-2005Test
https://aab.copernicus.org/articles/48/383/2005Test/