Mutations in ISPD cause Walker-Warburg syndrome and defective  glycosylation of α-dystroglycan.

BUYSSE, K; GILISSEN, C; MANCINI, GM; DELRÉE, P; WILLEMSEN, MA; RAMADZA, DP; CHITAYAT, D; BENNETT, C; SHERIDAN, E; LIN, YY; PEETERS, EA; TAN-SINDHUNATA, GM; de, Die-Smulders; DEVRIENDT, K; KAYSERILI, H; EL-HASHASH, OA; STEMPLE, DL; LEFEBER, DJ; van, Bokhoven; Altunoglu, UMUT; van, den; van, Beusekom; RIEMERSMA, M; PFUNDT, R; VISSERS, LE; ROSCIOLI, T; KAMSTEEG, EJ; MAYSTADT, I; van, Reeuwijk; SCHRADERS, M; BUCKLEY, MF; BRUNNER, HG; GRISART, B; ZHOU, H; VELTMAN, JA

dc.contributor.author	BUYSSE, K
dc.contributor.author	GILISSEN, C
dc.contributor.author	MANCINI, GM
dc.contributor.author	DELRÉE, P
dc.contributor.author	WILLEMSEN, MA
dc.contributor.author	RAMADZA, DP
dc.contributor.author	CHITAYAT, D
dc.contributor.author	BENNETT, C
dc.contributor.author	SHERIDAN, E
dc.contributor.author	LIN, YY
dc.contributor.author	PEETERS, EA
dc.contributor.author	TAN-SINDHUNATA, GM
dc.contributor.author	de, Die-Smulders
dc.contributor.author	DEVRIENDT, K
dc.contributor.author	KAYSERILI, H
dc.contributor.author	EL-HASHASH, OA
dc.contributor.author	STEMPLE, DL
dc.contributor.author	LEFEBER, DJ
dc.contributor.author	van, Bokhoven
dc.contributor.author	Altunoglu, UMUT
dc.contributor.author	van, den
dc.contributor.author	van, Beusekom
dc.contributor.author	RIEMERSMA, M
dc.contributor.author	PFUNDT, R
dc.contributor.author	VISSERS, LE
dc.contributor.author	ROSCIOLI, T
dc.contributor.author	KAMSTEEG, EJ
dc.contributor.author	MAYSTADT, I
dc.contributor.author	van, Reeuwijk
dc.contributor.author	SCHRADERS, M
dc.contributor.author	BUCKLEY, MF
dc.contributor.author	BRUNNER, HG
dc.contributor.author	GRISART, B
dc.contributor.author	ZHOU, H
dc.contributor.author	VELTMAN, JA
dc.date.accessioned	2021-03-05T20:45:39Z
dc.date.available	2021-03-05T20:45:39Z
dc.identifier.citation	ROSCIOLI T., KAMSTEEG E., BUYSSE K., MAYSTADT I., van R., van d., van B., RIEMERSMA M., PFUNDT R., VISSERS L., et al., "Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.", Nature genetics, cilt.44, ss.581-5, 2012
dc.identifier.issn	1061-4036
dc.identifier.other	av_d5b8e126-ea4b-4044-a6c1-78c650b106bb
dc.identifier.other	vv_1032021
dc.identifier.uri	http://hdl.handle.net/20.500.12627/141029
dc.identifier.uri	https://doi.org/10.1038/ng.2253
dc.language.iso	eng
dc.title	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
dc.type	Makale
dc.relation.journal	Nature genetics
dc.contributor.department	, ,
dc.identifier.volume	44
dc.identifier.startpage	581
dc.identifier.endpage	5
dc.contributor.firstauthorID	181704

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