Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.

dc.contributor.author	PEHLIVAN, Davut
dc.contributor.author	ZEYBEK, ÇA
dc.contributor.author	JHANGIANI, S
dc.contributor.author	Tuysuz, Beyhan
dc.contributor.author	YALCINKAYA, Cengiz
dc.contributor.author	MUZNY, DM
dc.contributor.author	LUPSKI, JR
dc.contributor.author	GIBBS, R
dc.contributor.author	JAEKEN, J
dc.contributor.author	ÖZKÖK, A
dc.date.accessioned	2021-03-04T13:25:05Z
dc.date.available	2021-03-04T13:25:05Z
dc.identifier.citation	Tuysuz B., PEHLIVAN D., ÖZKÖK A., JHANGIANI S., YALCINKAYA C., ZEYBEK Ç., MUZNY D., LUPSKI J., GIBBS R., JAEKEN J., "Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.", JIMD reports, cilt.26, ss.7-12, 2016
dc.identifier.issn	2192-8304
dc.identifier.other	vv_1032021
dc.identifier.other	av_7c4ba1fe-c88c-4308-ad3e-4959c3c82612
dc.identifier.uri	http://hdl.handle.net/20.500.12627/85017
dc.identifier.uri	https://doi.org/10.1007/8904_2015_478
dc.language.iso	eng
dc.title	Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.
dc.type	Makale
dc.relation.journal	JIMD reports
dc.contributor.department	, ,
dc.identifier.volume	26
dc.identifier.startpage	7
dc.identifier.endpage	12
dc.contributor.firstauthorID	123704

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