Sökning: onr:"swepub:oai:prod.swepub.kib.ki.se:121050081" > Stickler syndrome c...
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000 | 02851naa a2200877 4500 | |
001 | oai:prod.swepub.kib.ki.se:121050081 | |
003 | SwePub | |
008 | 240913s2010 | |||||||||||000 ||eng| | |
024 | 7 | a http://kipublications.ki.se/Default.aspx?queryparsed=id:1210500812 URI |
024 | 7 | a https://doi.org/10.1038/ejhg.2010.232 DOI |
040 | a (SwePub)ki | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Hoornaert, KP4 aut |
245 | 1 0 | a Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients |
264 | c 2010-02-24 | |
264 | 1 | b Springer Science and Business Media LLC,c 2010 |
700 | 1 | a Vereecke, I4 aut |
700 | 1 | a Dewinter, C4 aut |
700 | 1 | a Rosenberg, T4 aut |
700 | 1 | a Beemer, FA4 aut |
700 | 1 | a Leroy, JG4 aut |
700 | 1 | a Bendix, L4 aut |
700 | 1 | a Bjorck, Eu Karolinska Institutet4 aut |
700 | 1 | a Bonduelle, M4 aut |
700 | 1 | a Boute, O4 aut |
700 | 1 | a Cormier-Daire, V4 aut |
700 | 1 | a De Die-Smulders, C4 aut |
700 | 1 | a Dieux-Coeslier, A4 aut |
700 | 1 | a Dollfus, H4 aut |
700 | 1 | a Elting, M4 aut |
700 | 1 | a Green, A4 aut |
700 | 1 | a Guerci, VI4 aut |
700 | 1 | a Hennekam, RCM4 aut |
700 | 1 | a Hilhorts-Hofstee, Y4 aut |
700 | 1 | a Holder, M4 aut |
700 | 1 | a Hoyng, C4 aut |
700 | 1 | a Jones, KJ4 aut |
700 | 1 | a Josifova, D4 aut |
700 | 1 | a Kaitila, I4 aut |
700 | 1 | a Kjaergaard, S4 aut |
700 | 1 | a Kroes, YH4 aut |
700 | 1 | a Lagerstedt, Ku Karolinska Institutet4 aut |
700 | 1 | a Lees, M4 aut |
700 | 1 | a LeMerrer, M4 aut |
700 | 1 | a Magnani, C4 aut |
700 | 1 | a Marcelis, C4 aut |
700 | 1 | a Martorell, L4 aut |
700 | 1 | a Mathieu, M4 aut |
700 | 1 | a McEntagart, M4 aut |
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700 | 1 | a Morton, J4 aut |
700 | 1 | a Orazio, G4 aut |
700 | 1 | a Paquis, V4 aut |
700 | 1 | a Reish, O4 aut |
700 | 1 | a Simola, KOJ4 aut |
700 | 1 | a Smithson, SF4 aut |
700 | 1 | a Temple, KI4 aut |
700 | 1 | a Van Aken, E4 aut |
700 | 1 | a Van Bever, Y4 aut |
700 | 1 | a van den Ende, J4 aut |
700 | 1 | a Van Hagen, JM4 aut |
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700 | 1 | a De Buyzere, M4 aut |
700 | 1 | a Coucke, PJ4 aut |
700 | 1 | a Mortier, GR4 aut |
710 | 2 | a Karolinska Institutet4 org |
773 | 0 | t European journal of human genetics : EJHGd : Springer Science and Business Media LLCg 18:8, s. 872-880q 18:8<872-880x 1476-5438x 1018-4813 |
856 | 4 | u https://www.nature.com/articles/ejhg201023.pdf |
856 | 4 8 | u http://kipublications.ki.se/Default.aspx?queryparsed=id:121050081 |
856 | 4 8 | u https://doi.org/10.1038/ejhg.2010.23 |
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