Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline

Granzow, M.; Paramasivam, N.; Hinderhofer, K.; Fischer, C.; Chotewutmontri, S.; Kaufmann, L.; Evers, C.; Kotzaeridou, U.; Rohrschneider, K.; Schlesner, M.; Sturm, M.; Pinkert, S.; Eils, R.; Bartram, C. R.; Bauer, P.; Moog, U.

dc.contributor.author	Sturm, Marc
dc.contributor.author	Bauer, Peter
dc.date.accessioned	2016-07-21T11:50:21Z
dc.date.available	2016-07-21T11:50:21Z
dc.date.issued	2015
dc.identifier.issn	0890-8508
dc.identifier.uri	http://hdl.handle.net/10900/71742
dc.language.iso	en	de_DE
dc.publisher	Academic Press Ltd - Elsevier Science Ltd	de_DE
dc.relation.uri	http://dx.doi.org/10.1016/j.mcp.2015.05.012	de_DE
dc.rights	info:eu-repo/semantics/closedAccess
dc.subject.ddc	570	de_DE
dc.subject.ddc	610	de_DE
dc.title	Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline	de_DE
dc.type	Article	de_DE
utue.quellen.id	20160427062602_00825
utue.publikation.seiten	323-329	de_DE
utue.personen.roh	Granzow, M.
utue.personen.roh	Paramasivam, N.
utue.personen.roh	Hinderhofer, K.
utue.personen.roh	Fischer, C.
utue.personen.roh	Chotewutmontri, S.
utue.personen.roh	Kaufmann, L.
utue.personen.roh	Evers, C.
utue.personen.roh	Kotzaeridou, U.
utue.personen.roh	Rohrschneider, K.
utue.personen.roh	Schlesner, M.
utue.personen.roh	Sturm, M.
utue.personen.roh	Pinkert, S.
utue.personen.roh	Eils, R.
utue.personen.roh	Bartram, C. R.
utue.personen.roh	Bauer, P.
utue.personen.roh	Moog, U.
dcterms.isPartOf.ZSTitelID	Molecular and Cellular Probes	de_DE
dcterms.isPartOf.ZS-Issue	5	de_DE
dcterms.isPartOf.ZS-Volume	29	de_DE
utue.fakultaet	04 Medizinische Fakultät	de_DE