Results 211 to 220 of about 19,769 (229)
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American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 2020
Juliana M F Sallum +2 more
exaly
Juliana M F Sallum +2 more
exaly
[Inherited retinal dystrophies: contributions of molecular genetics].
Biologie aujourd'hui, 2014Inherited retinal dystrophies are Mendelian neurodegenerative conditions. The mutations of the responsible genes lead both to cell dysfunction and cell death in the retina. The majority of these diseases are responsible for a progressive vision loss ending in almost complete blindness. Recent breakthroughs in molecular genetics technologies (microchips,
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Mutation spectrum and genotype‐phenotype correlation of inherited retinal dystrophy in Taiwan
Clinical and Experimental Ophthalmology, 2020Keng-Hung Lin +2 more
exaly
Gene therapy for RPE65 -mediated inherited retinal dystrophy completes phase 3
Lancet, The, 2017Helena Lee, Andrew J Lotery
exaly
Retinal reductase activity in rats with and without inherited retinal dystrophy
Experimental Eye Research, 1981P A, Jansen, F J, Daemen
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Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies
Biomolecules, 2023exaly