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Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy
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Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement
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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness
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BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome
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Enhanced S-cone syndrome with preserved macular structure and severely depressed retinal function
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Identity-by-descent mapping reveals a new locus for primary congenital glaucoma, GLC3E, on chromosome 19p13.2
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Identification de gènes candidats pour des dystrophies rétiniennes par des délétions homozygotes
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Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
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Regulatory mutations in the 5'UTR of NMNAT1, encoding the nuclear isoform of nicotinamide nucleotide adenylyltransferase 1, cause Leber Congenital Amaurosis
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Insights into levator muscle dysfunction in a cohort of patients with molecularly confirmed blepharophimosis-ptosis-epicanthus inversus syndrome using high-resolution imaging, anatomic examination and histopathologic examination