Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy

Saunier, Sophie; KAYSERİLİ, HÜLYA; Milford, David V; Soliman, Neveen A; Antignac, Corinne; Johnson, Colin A; Hildebrandt, Friedhelm; Zhou, Weibin; Airik, Rannar; Otto, Edgar A; Ramazwami, Gokul; Janssen, Sabine; Chaki, Moumita; Allen, Susan J; Hurd, Toby W; Ghosh, Amiya K; Wolf, Matthias T; Hoppe, Bernd; Neuhaus, Thomas J; Bockenhauer, Detlef

dc.contributor.author	Saunier, Sophie
dc.contributor.author	KAYSERİLİ, HÜLYA
dc.contributor.author	Milford, David V
dc.contributor.author	Soliman, Neveen A
dc.contributor.author	Antignac, Corinne
dc.contributor.author	Johnson, Colin A
dc.contributor.author	Hildebrandt, Friedhelm
dc.contributor.author	Zhou, Weibin
dc.contributor.author	Airik, Rannar
dc.contributor.author	Otto, Edgar A
dc.contributor.author	Ramazwami, Gokul
dc.contributor.author	Janssen, Sabine
dc.contributor.author	Chaki, Moumita
dc.contributor.author	Allen, Susan J
dc.contributor.author	Hurd, Toby W
dc.contributor.author	Ghosh, Amiya K
dc.contributor.author	Wolf, Matthias T
dc.contributor.author	Hoppe, Bernd
dc.contributor.author	Neuhaus, Thomas J
dc.contributor.author	Bockenhauer, Detlef
dc.date.accessioned	2021-03-02T22:44:54Z
dc.date.available	2021-03-02T22:44:54Z
dc.date.issued	2011
dc.identifier.citation	Otto E. A. , Ramazwami G., Janssen S., Chaki M., Allen S. J. , Zhou W., Airik R., KAYSERİLİ H., Hurd T. W. , Ghosh A. K. , et al., "Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy", JOURNAL OF MEDICAL GENETICS, cilt.48, sa.2, ss.105-16, 2011
dc.identifier.issn	0022-2593
dc.identifier.other	av_0e6855e7-187f-40b6-b6f3-26caa2d72f2a
dc.identifier.other	vv_1032021
dc.identifier.uri	http://hdl.handle.net/20.500.12627/15262
dc.language.iso	eng
dc.subject	Yaşam Bilimleri
dc.subject	Temel Bilimler
dc.subject	Moleküler Biyoloji ve Genetik
dc.subject	Yaşam Bilimleri (LIFE)
dc.subject	Moleküler Biyoloji ve Genetik
dc.title	Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy
dc.type	Makale
dc.relation.journal	JOURNAL OF MEDICAL GENETICS
dc.contributor.department	, ,
dc.identifier.volume	48
dc.identifier.issue	2
dc.identifier.startpage	105
dc.identifier.endpage	16
dc.contributor.firstauthorID	345337

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