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18篇 您的检索式：作者名="KOENEKOOP"

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		题名	作者	年代	出处	被引量
	1	Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis显示文摘	Pina AL Loyer M	1999	Mol Vis1999，510，：	1
	2	Leber congenital amaurosis : genes, proteins and disease mechanisms 显示文摘	den Hollander AI Roepman R Koenekoop RK	2008	Prog Retin Eye Res2008，27，：	1
	3	An overview of Leber congenital amaurosis : A model to understand human retinal development 显示文摘	Koenekoop R K	2004	Surv Ophthalmol2004，49，4：	1
	4	Visual improvement in Leber congenital amaurosis and the CRX genotype 显示文摘	Koenekoop RK Loyer M Dembinska O	2002	Ophthalmic Genet2002，23，1：	1
	5	Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration显示文摘	Koenekoop RK Wang I-I Majewski J	2012	Nat Genet2012，44，：	1
	6	Novel RPGR mutations with distinct retinitis pigmentosa pheno- types in French-Canadian families 显示文摘	Koenekoop R K Loyer M Hand C K	2003	Am J Ophthalmol2003，136，67：	1
	7	Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families 显示文摘	Koenekoop R K Loyer M Hand C K	2003	Am J Ophthal- mol2003，136，：	1
	8	Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis显示文摘	Koenekoop R Pina AL Loyer M	1999	Mol Vis1999，5，：	1
	9	An overview of Leber congenital amaurosis:a model to understand human retinal development显示文摘	Koenekoop RK	2004	Surv Ophthalmol2004，49，：	1
	10	Leber congenital amaurosis:genes,proteins and disease mechanisms显示文摘	den Hollander AI Roepman R Koenekoop RK	2008	Prog Retin Eye Res2008，27，：	1
	11	An overview of Leber congenital amaurosis: a model to understand human retinal development显示文摘	Koenekoop RK	2004	Surv2004，49，4：	1
	12	Leber congenital amaurosis: genes, proteins and disease mechanismas显示文摘	den Hollander AI, Roepman R, Koenekoop RK,	2008	Prog Retin Eye2008，27，4：	1
	13	CYP1B1mutations in patients with primary congenital glaucoma from Saudi Arabia显示文摘	Badeeb OM Micheal S Koenekoop RK	2014	BMC Med Genet2014，15，1：	1
	14	An overview of Leber congenital amaurosis:a model to understand human retinal development显示文摘	Koenekoop RK	2004	Surv Ophthalmol2004，49，：	1
	15	Leber congenital amaurosis:genes,proteins and disease mechanisms显示文摘	den Hollander AI Roepman R Koenekoop RK	2008	Prog Retin Eye Res2008，27，：	1
	16	Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12显示文摘	KERRISON J B KOENEKOOP R K AMOULD V J		0，，1：	1
	17	Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12显示文摘	Kerrison J B Koenekoop R K Arnould V J	1998	Am J Ophthal1998，125，1：	1
	18	AIPL1突变患者先天性Leber黑蒙表现型显示文摘目的:叙述26例先证者中芳香族羟基碳氢化合物受体蛋白样1蛋白质(AIPL1)突变的先天性Leber黑蒙(LCA)的表现型,并比较其他LCA相关性基因的表现型。叙述杂合子携带者的视网膜电图(ERG)。	Sharola Dharmaraj Ban P. Leroy Melanie M. Sohocki Robert K. Koenekoop Isabelle Perrault Khalid Anwar Shagufta Khaliq R. Summathi Devi David G. Birch Elaine De Pool Natalio Izquierdo Lionel Van Maldergem Mohammad Ismail Annette M. Payne Graham E. Holder Shomi S. Bhattacharya Alan C. Bird Josseline Kaplan Irene H. Maumenee 刘欣怡(译)	2005	美国医学会眼科杂志(中文版)2005，17，2：	0

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