lebers congenital amaurosis

نتایج جستجو برای: lebers congenital amaurosis

تعداد نتایج: 120868 فیلتر نتایج به سال:

Quinine Amaurosis

Journal: :British Journal of Ophthalmology 1955

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Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis

Journal: :Experimental Eye Research 2006

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Whole-exome sequencing identifies two novel ALMS1 mutations in Indian patients with Leber congenital amaurosis

Journal: :Human Genome Variation 2021

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Identification of a novelRPGRIP1mutation in an Iranian family with leber congenital amaurosis by exome sequencing

Journal: :Journal of Cellular and Molecular Medicine 2017

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The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium

Journal: :PLOS ONE 2015

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Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing

Journal: :Scientific Reports 2018

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Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families

Journal: :PLOS ONE 2015

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Unexpected CEP290 mRNA Splicing in a Humanized Knock-In Mouse Model for Leber Congenital Amaurosis

Journal: :PLoS ONE 2013

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Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis

Journal: :Journal of Neuroscience 2016

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Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions

Journal: :British Journal of Ophthalmology 2017

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