المؤلفون: Gallagher, Renata, Laemmle, A, Gallagher, RC, Keogh, A, Stricker, T, Gautschi, M, Nuoffer, J-M, Baumgartner, MR, Haeberle, J

الوصول الحر: https://escholarship.org/uc/item/3vh3g83rTest

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: Posset, R, Garbade, SF, Gleich, F, Gropman, AL, de Lonlay, P, Hoffmann, GF, Garcia-Cazorla, A, Nagamani, SCS, Baumgartner, MR, Schulze, A, Dobbelaere, D, Yudkoff, M, Kölker, S, Zielonka, M, Ah Mew, N, Berry, SA, McCandless, SE, Coughlin, C, Enns, G, Gallagher, RC, Burrage, LC, Seminara, J, Harding, CO, Burgard, P, Le Mons, C, Merritt, JL, II, Stricker, T, Bedoyan, JK, Berry, GT, Diaz, GA, Wong, D, Tuchman, M, Waisbren, S, Weisfeld-Adams, JD, Burlina, AB, Leão Teles, E, Pedrón-Giner, C, Lund, AM, Dionisi-Vici, C, Williams, Monique, Mütze, U, Karall, D, Blasco-Alonso, J, Couce, ML, Sykut-Cegielska, J, Augoustides-Savvopoulou, P, Ruiz Gomez, A, Bari?, I, Schiff, M, Chien, YH

المصدر: Posset , R , Garbade , SF , Gleich , F , Gropman , AL , de Lonlay , P , Hoffmann , GF , Garcia-Cazorla , A , Nagamani , SCS , Baumgartner , MR , Schulze , A , Dobbelaere , D , Yudkoff , M , Kölker , S , Zielonka , M , Ah Mew , N , Berry , SA , McCandless , SE , Coughlin , C , Enns , G , Gallagher , RC , Burrage , LC , Seminara , J , Harding , CO , Burgard , P , Le ....

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1038/s41598-020-67496-3Test
https://pure.eur.nl/en/publications/73699bdb-fc0a-4270-a145-fa58f1f2dc6eTest
https://pure.eur.nl/ws/files/48368802/Repub_129092_O-A.pdfTest
http://hdl.handle.net/1765/129092Test

المؤلفون: Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B Jr, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK.

المساهمون: Friederich, Mw, Timal, S, Powell, Ca, Dallabona, C, Kurolap, A, Palacios-Zambrano, S, Bratkovic, D, Derks, Tgj, Bick, D, Bouman, K, Chatfield, Kc, Damouny-Naoum, N, Dishop, Mk, Falik-Zaccai, Tc, Fares, F, Fedida, A, Ferrero, I, Gallagher, Rc, Garesse, R, Gilberti, M, González, C, Gowan, K, Habib, C, Halligan, Rk, Kalfon, L, Knight, K, Lefeber, D, Mamblona, L, Mandel, H, Mory, A, Ottoson, J, Paperna, T, Pruijn, Gjm, Rebelo-Guiomar, Pf, Saada, A, Sainz, B Jr, Salvemini, H, Schoots, Mh, Smeitink, Ja, Szukszto, Mj, Ter Horst, Hj, van den Brandt, F, van Spronsen, Fj, Veltman, Ja, Wartchow, E, Wintjes, Lt, Zohar, Y, Fernández-Moreno, Ma, Baris, Hn, Donnini, C, Minczuk, M, Rodenburg, Rj, Van Hove, Jlk.

مصطلحات موضوعية: Human mitochondrial disease, aminoacyl-tRNA synthetase, GatCAB aminoacyl-tRNA amidotransferase complex, Saccharomyces cerevisiae as model organism, ScHER2, ScPET112

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000446333400005; volume:9; issue:1; firstpage:4065; lastpage:4078; numberofpages:14; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11381/2850979Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85054370449; https://www.nature.com/articles/s41467-018-06250-w.pdfTest

الإتاحة: https://doi.org/10.1038/s41467-018-06250-wTest
http://hdl.handle.net/11381/2850979Test
https://www.nature.com/articles/s41467-018-06250-w.pdfTest

المؤلفون: Zweier, C, Thiel, CT, Dufke, A, Crow, YJ, Meinecke, P, Suri, M, Ala-Mello, S, Beemer, F, Bernasconi, S, Bianchi, P, Bier, A, Devriendt, Koenraad, Dimitrov, Boyan, Firth, H, Gallagher, RC, Garavelli, L, Gillessen-Kaesbach, G, Hudgins, L, Kaariainen, H, Karstens, S, Krantz, I, Mannhardt, A, Medne, L, Mucke, J, Kibaek, M, Krogh, LN, Peippo, M, Rittinger, O, Schulz, S, Schelley, SL, Temple, IK, Dennis, NR, Van der Knaap, MS, Wheeler, P, Yerushalmi, B, Zenker, M, Seidel, H, Lachmeijer, A, Prescott, T, Kraus, C, Lowry, RB, Rauch, A

مصطلحات موضوعية: zfhx1b, mowat-wilson, parental mosaicism, microphthalmia, hscr, corpus callosum, hypospadias, mental retardation, smad-interacting protein-1, characteristic facial features, mental retardation syndrome, box 1b gene, hirschsprung-disease, deletions, sip1, delineation, expression

العلاقة: European Journal of Medical Genetics vol:48 issue:2 pages:97-111; https://lirias.kuleuven.be/handle/123456789/218939Test; http://gateway.isiknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ScienceDirect&SrcApp=PRODUCT_NAME&KeyAID=S176972120500008X&DestApp=ScienceDirect&SrcAppSID=APP_SID&SrcJTitle=WURS_TITLETest

الإتاحة: https://lirias.kuleuven.be/handle/123456789/218939Test
http://gateway.isiknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ScienceDirect&SrcApp=PRODUCT_NAME&KeyAID=S176972120500008X&DestApp=ScienceDirect&SrcAppSID=APP_SID&SrcJTitle=WURS_TITLETest