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Mutation altering the miR-184 seed region causes familial keratoconus with cataractCRYBB1 mutation associated with congenital cataract and microcorneaModification of the tear function index and its use in the diagnosis of Sjögren's syndromeIntraspecific variation and sexual dimorphism in cranial and dental variables among higher primates and their bearing on the hominid fossil record.An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genesMutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.Marginal corneal vascular arcades.Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern IrelandSimplifying collection of corneal specimens in cases of suspected bacterial keratitis.A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconusMissense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.Femtosecond Laser-Assisted Lamellar Keratectomy for Corneal Opacities Secondary to Anterior Corneal Dystrophies: An Interventional Case Series.Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie SyndromeThe ocular phenotype of stiff-skin syndrome.Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.Mitochondrial dysfunction in glaucoma: understanding genetic influences.Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli.A COL17A1 Splice-Altering Mutation Is Prevalent in Inherited Recurrent Corneal Erosions.Angiographic and In Vivo Confocal Microscopic Characterization of Human Corneal Blood and Presumed Lymphatic Neovascularization: A Pilot Study.Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.Whole-mitochondrial genome sequencing in primary open-angle glaucoma using massively parallel sequencing identifies novel and known pathogenic variants.Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA-based prenatal diagnosis.Infantile bilateral glaucoma in a child with ectodermal dysplasia.Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.Mutational screening of VSX1 in keratoconus patients from the European population.Epstein-Barr virus (types 1 and 2) in the tear film in Sjogren's syndrome and HIV infection.Pitfalls in the management of a child with mild haemophilia A and a traumatic hyphaema.Gene-based antiangiogenic applications for corneal neovascularization.Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome.Correction of Mutant p63 in EEC Syndrome Using siRNA Mediated Allele-Specific Silencing Restores Defective Stem Cell Function.Oral manifestations in a boy with X-linked reticulate pigmentary disorder.Response to Iliff et?al.Mitochondrial dysfunction and oxidative stress in corneal disease.Deformation velocity imaging using optical coherence tomography and its applications to the cornea.Comparison of preservation and transportation protocols for preloaded Descemet membrane endothelial keratoplasty.Influence of graft size on graft survival following Descemet stripping automated endothelial keratoplasty.
P50
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P50
description
hulumtues
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wetenschapper
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հետազոտող
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name
Colin E Willoughby
@nl
Colin E Willoughby
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Colin E. Willoughby
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Colin E. Willoughby
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type
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Colin E Willoughby
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Colin E Willoughby
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Colin E. Willoughby
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Colin E. Willoughby
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Colin Willoughby
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Colin E Willoughby
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Colin E Willoughby
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Colin E. Willoughby
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Colin E. Willoughby
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P106
P1153
56903927400
P21
P2798
P31
P496
0000-0002-1246-4166