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Mutations in ISPD cause Walker-Warburg syndrome and defecti..:
Roscioli, Tony
;
Kamsteeg, Erik-Jan
;
Buysse, Karen
...
Nature Genetics. 44 (2012) 5 - p. 581-585 , 2012
Link:
https://doi.org/10.1038/ng.2253
RT Journal T1
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
UL https://suche.suub.uni-bremen.de/peid=cr-10.1038_ng.2253&Exemplar=1&LAN=DE A1 Roscioli, Tony A1 Kamsteeg, Erik-Jan A1 Buysse, Karen A1 Maystadt, Isabelle A1 van Reeuwijk, Jeroen A1 van den Elzen, Christa A1 van Beusekom, Ellen A1 Riemersma, Moniek A1 Pfundt, Rolph A1 Vissers, Lisenka E L M A1 Schraders, Margit A1 Altunoglu, Umut A1 Buckley, Michael F A1 Brunner, Han G A1 Grisart, Bernard A1 Zhou, Huiqing A1 Veltman, Joris A A1 Gilissen, Christian A1 Mancini, Grazia M S A1 Delrée, Paul A1 Willemsen, Michèl A A1 Ramadža, Danijela Petković A1 Chitayat, David A1 Bennett, Christopher A1 Sheridan, Eamonn A1 Peeters, Els A J A1 Tan-Sindhunata, Gita M B A1 de Die-Smulders, Christine E A1 Devriendt, Koenraad A1 Kayserili, Hülya PB Springer Science and Business Media LLC YR 2012 SN 1061-4036 SN 1546-1718 JF Nature Genetics VO 44 IS 5 SP 581 OP 585 LK http://dx.doi.org/https://doi.org/10.1038/ng.2253 DO https://doi.org/10.1038/ng.2253 SF ELIB - SuUB Bremen
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