Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.
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Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaStructural modeling of a novel SLC38A8 mutation that causes foveal hypoplasiaA novel RPGR mutation masquerading as Stargardt disease.Cone photoreceptor abnormalities correlate with vision loss in a case of acute posterior multifocal placoid pigment epitheliopathyRetinal damage in chloroquine maculopathy, revealed by high resolution imaging: a case report utilizing adaptive optics scanning laser ophthalmoscopy.Rapid resolution of retinoschisis with acetazolamideThe fundus photo has met its match: optical coherence tomography and adaptive optics ophthalmoscopy are here to stayCharacterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosaCELLULAR IMAGING OF THE TAPETAL-LIKE REFLEX IN CARRIERS OF RPGR-ASSOCIATED RETINOPATHY.
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Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 27 February 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.
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Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.
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Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.
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Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.
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Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.
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Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.
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Cellular imaging demonstrates ...... f an X-linked ciliopathy gene.
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In Hwan Hong
Stanley Chang
Stephen H Tsang
Sung Pyo Park
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10.1038/EJHG.2013.21
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2013-02-27T00:00:00Z
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1048250847