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- 2023
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Mark
A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing
(
- Contribution to journal › Article
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Mark
Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
(
- Contribution to journal › Article
- 2022
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Mark
Dexamethasone eye-drops for treatment of retinopathy of prematurity
(
- Contribution to journal › Article
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Mark
The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy
(
- Contribution to journal › Article
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Mark
Full-Field Electroretinography Changes Associated with Age-Related Macular Degeneration : A Systematic Review with Meta-Analyses
(
- Contribution to journal › Scientific review
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Mark
A novel phenotype associated with the R162W variant in the KCNJ13 gene
(
- Contribution to journal › Article
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Mark
A five-year follow-up of ABCA4 carriers showing deterioration of retinal function and increased structural changes
(
- Contribution to journal › Article
- 2021
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Mark
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene
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- Contribution to journal › Article
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Mark
Full-field electroretinography in age-related macular degeneration : an overall retinal response
(
- Contribution to journal › Article
- 2020
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Mark
Clinical phenotype and course of PDE6A-associated retinitis pigmentosa disease, characterized in preparation for a gene supplementation trial
(
- Contribution to journal › Article
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Mark
Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?
(
- Contribution to journal › Debate/Note/Editorial
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Mark
Longitudinal changes of macular curvature in patients with retinitis pigmentosa
(
- Contribution to journal › Article
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Mark
Long-term effects of hyperbaric oxygen therapy on visual acuity and retinopathy
(
- Contribution to journal › Article
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Mark
Full-field Electroretinography in Age-related Macular Degeneration : can retinal electrophysiology predict the subjective visual outcome of cataract surgery?
(
- Contribution to journal › Article
- 2019
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Mark
Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
(
- Contribution to journal › Letter
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Mark
A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa
(
- Contribution to journal › Article
- 2018
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Mark
Presence of chronic diabetic foot ulcers is associated with more frequent and more advanced retinopathy
(
- Contribution to journal › Article
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Mark
Cerebral Functional Magnetic Resonance Imaging and Multifocal Visual Evoked Potentials in a Patient with Unexplained Impairment of Visual Function : A Case Report
(
- Contribution to journal › Article
- 2017
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Mark
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome
(
- Contribution to journal › Article
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Mark
The clinical phenotype of CNGA3-related achromatopsia : Pretreatment characterization in preparation of a gene replacement therapy trial
(
- Contribution to journal › Article
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Mark
Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC
(
- Contribution to journal › Article
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Mark
An Expanded Multi-Organ Disease Phenotype Associated with Mutations in YARS
(
- Contribution to journal › Article
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Mark
Reduction of rod and cone function in 6.5-year-old children born extremely preterm
(
- Contribution to journal › Article
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Mark
Ataxia-pancytopenia syndrome with SAMD9L mutations
(
- Contribution to journal › Article
- 2016
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Mark
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
(
- Contribution to journal › Article
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Mark
A cross-linked hyaluronic acid hydrogel (Healaflow(®)) as a novel vitreous substitute.
2016) In Graefe's Archive for Clinical and Experimental Ophthalmology(
- Contribution to journal › Article
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Mark
Aryl Hydrocarbon Receptor-Interacting Protein-Like 1 in Cancer-Associated Retinopathy.
2016) In Ophthalmology(
- Contribution to journal › Article
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Mark
Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility
(
- Contribution to journal › Article
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Mark
Increased Plasma cGMP in a Family With Autosomal Recessive Retinitis Pigmentosa Due to Homozygous Mutations in the PDE6A Gene
(
- Contribution to journal › Article
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Mark
Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects
(
- Contribution to journal › Article
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Mark
Macular function in preterm children at school age
(
- Contribution to journal › Article
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Mark
Most patients with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency develop pathological or subnormal retinal function
(
- Contribution to journal › Article
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Mark
Fixation stability and implication for multifocal electroretinography in patients with neovascular age-related macular degeneration after anti-VEGF treatment
(
- Contribution to journal › Article
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Mark
Characterization of macular structure and function in two swedish families with genetically identified autosomal dominant retinitis pigmentosa
(
- Contribution to journal › Article
- 2015
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Mark
Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.
2015) In Graefe's Archive for Clinical and Experimental Ophthalmology(
- Contribution to journal › Article
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Mark
Macular function measured by binocular mfERG and compared with macular structure in healthy children.
(
- Contribution to journal › Article
- 2014
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Mark
Attenuation of the retinal nerve fibre layer and reduced retinal function assessed by optical coherence tomography and full-field electroretinography in patients exposed to vigabatrin medication.
(
- Contribution to journal › Article
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Mark
Cone implicit time as a predictor of visual outcome in macular hole surgery.
(
- Contribution to journal › Article
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Mark
Retinal Function and Morphology in the Rabbit Eye after Intravitreal Injection of the TNF Alpha Inhibitor Adalimumab.
(
- Contribution to journal › Article
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Mark
Alteration of Vitreal Retinoschisin Level in Human Primary Retinal Detachment.
(
- Contribution to journal › Letter
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Mark
Genotype-phenotype Correlations, and Retinal Function and Structure in von Hippel-Lindau Disease.
(
- Contribution to journal › Article
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Mark
Photoreceptor Function in School-Aged Children is Affected by Preterm Birth.
(
- Contribution to journal › Article
- 2013
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Mark
Vitreous levels of oxidative stress biomarkers and the radical-scavenger α(1)-microglobulin/A1M in human rhegmatogenous retinal detachment.
(
- Contribution to journal › Article
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Mark
Angiography and mfERG show that blood supply to the pig retina may be both ipsilateral and contralateral.
(
- Contribution to journal › Article
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Mark
Intravitreal Injection of Triamcinolone Acetonide into Healthy Rabbit Eyes Alters Retinal Function and Morphology
(
- Contribution to journal › Article
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Mark
Macular dysfunction in drusen maculopathy assessed with multifocal electroretinogram and optical coherence tomography.
(
- Contribution to journal › Article
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Mark
Transcutaneous Oximetry but not Arterial Toe Blood Pressure or Ankle-Brachial Index is related to Macular Thickness in Patients with Chronic Diabetic Foot Ulcers
(
- Contribution to journal › Article
- 2012
-
Mark
Mutations in RPGR and RP2 Account for 15% of Males with Simplex Retinal Degenerative Disease
(
- Contribution to journal › Article
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Mark
Multifocal Visual Evoked Potentials (mfVEP) in Diabetic Patients with and without Polyneuropathy.
(
- Contribution to journal › Article
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Mark
Retinal function and morphology in rabbit after intravitreal injection of VEGF inhibitors.
(
- Contribution to journal › Article