about
ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomaliesEpilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutationsThe achiasmia spectrum: congenitally reduced chiasmal decussation.Leber congenital amaurosis associated with AIPL1: challenges in ascribing disease causation, clinical findings, and implications for gene therapy.Congenital high myopia and central macular atrophy: a report of 3 families.The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations.Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG.Retinal on-pathway deficit in congenital disorder of glycosylation due to phosphomannomutase deficiency.Sustained raised intracranial pressure implicated only by pattern reversal visual evoked potentials after cranial vault expansion surgery.Modulation of amblyopia therapy following early surgery for unilateral congenital cataracts.Multi-centre variability of ISCEV standard ERGs in two normal adults.Ocular and neurodevelopmental features of Duchenne muscular dystrophy: a signature of dystrophin function in the central nervous system.Hereditary primary lateral sclerosis with cone dysfunction.Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD).Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome.Visual outcomes following intraophthalmic artery melphalan for patients with refractory retinoblastoma and age appropriate vision.Joubert syndrome: long-term follow-up.Juvenile xanthogranuloma with presumed involvement of the optic disc and retina.Motion and pattern cortical potentials in adults with high-functioning autism spectrum disorder.Expansion of ocular phenotypic features associated with mutations in ADAMTS18.Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.Ophthalmological aspects of Pierson syndrome.Foveal cavitation as an optical coherence tomography finding in central cone dysfunction.An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy.Full-field electroretinogram in autism spectrum disorder.Saccadic instabilities in albinism without nystagmus.An optical stimulator for studying the topography of electrical and magnetic visual evoked responses.THE PHYSIOLOGY OF THE RETINAL PIGMENT EPITHELIUM IN DANON DISEASE.Computation of the luminance and pattern components of the bar pattern electroretinogram.Visual-evoked potential evidence of chiasmal hypoplasia.The optokinetic response differences between congenital profound and nonprofound unilateral visual deprivation.The effect of stimulus contrast on the latency and amplitude of the pattern electroretinogram.Visual field loss in children with craniosynostosis.Monitoring visual function in children with syndromic craniosynostosis: a comparison of 3 methodsPrevalence of abnormal pattern reversal visual evoked potentials in craniosynostosisPhenotypic Diversity and Mutation Spectrum in Hypotrichosis with Juvenile Macular DystrophyChildhood-Onset Autosomal Recessive BestrophinopathyThe 50th ISCEV international symposium abstract issueA clinical classification system for paravenous pigmentary chorioretinal atrophy (PPCRA) in childhood
P50
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description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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Dorothy Thompson
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Dorothy Thompson
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Dorothy Thompson
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Dorothy Thompson
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Dorothy Thompson
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Дороти Томпсон
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Dorothy Thompson
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Dorothy Thompson
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Dorothy Thompson
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Dorothy Thompson
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Dorothy Thompson
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Дороти Томпсон
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prefLabel
Dorothy Thompson
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Dorothy Thompson
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Dorothy Thompson
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Dorothy Thompson
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Dorothy Thompson
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Дороти Томпсон
@ru
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7404935216
P21
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0000-0001-5491-3911