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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

Npj genomic medicine, 2021-11, Vol.6 (1), p.97-97, Article 97

2021

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The Early Treatment in Diabetic Retinopathy Study Chart Compared with the Tumbling-E and Landolt-C

Ophthalmology (Rochester, Minn.), 2015-05, Vol.122 (5), p.1062-1063.e1

2015

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Persistent pseudomyopia following a whiplash injury in a previously emmetropic woman

American journal of ophthalmology case reports, 2017-12, Vol.8 (C), p.28-30

2017

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Direct Exchange of PerfluoroCarbon Liquid for Silicone Oil: A Surgical Technique to Control Pressure and Avoid Retinal Slippage

Retina (Philadelphia, Pa.), 2023-12, Vol.43 (12), p.2104

2023

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Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review

Investigative ophthalmology & visual science, 2023-07, Vol.64 (10), p.23-23

2023

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A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy

Eye (London), 2021-05, Vol.35 (5), p.1482-1489

2021

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Iris-fixated phakic intraocular lens explantation

European journal of ophthalmology, 2021-05, Vol.31 (3), p.988-993

2021

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Investigating the Role of Optometrists in Teleophthalmology and the Implications of Increasing Access to Advanced Imaging Techniques and Digital Referral: A Systematic Search and Review

Telemedicine journal and e-health, 2021-09, Vol.27 (9), p.974

2021

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Corneal inlay implantation complicated by infectious keratitis

British journal of ophthalmology, 2016-02, Vol.100 (2), p.269-273

2016

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CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History

Ophthalmology retina, 2023-10, Vol.7 (10), p.918-931

2023

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Long-term heavy silicone oil intraocular tamponade

International ophthalmology, 2016-02, Vol.36 (1), p.3-7

2016

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CERKL-Associated Retinal Dystrophy

Ophthalmology retina, 2023-10, Vol.7 (10), p.918-931

2023

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Persistent pseudomyopia following a whiplash injury in a previously emmetropic woman

American journal of ophthalmology case reports, 2017, Vol.8, p.28-30

2017

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Photoreceptors in health and monogenic disease: from half a billion years ago to the future

The Journal of physiology, 2022-11, Vol.600 (21), p.4583-4584

2022

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Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations

Scientific reports, 2016-09, Vol.6 (1), p.33248-33248, Article 33248

2016

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Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

Scientific reports, 2023-06, Vol.13 (1), p.9380-9380, Article 9380

2023

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Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.200-200, Article 200

2021

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A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration

British journal of ophthalmology, 2016-04, Vol.100 (4), p.495-500

2016

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Ophthalmic Manifestations of Vitamin A and D Deficiency in Two Autistic Teenagers: Case Reports and a Review of the Literature

Case reports in ophthalmology, 2015-01, Vol.6 (1), p.24-29

2015

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Social cognition in bipolar disorder versus schizophrenia: comparability in mental state decoding deficits

Bipolar disorders, 2012-11, Vol.14 (7), p.743-748

2012

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A Case Series of “Solitary Idiopathic Choroiditis” and Proposal of a Nomenclature Change to “Idiopathic Scleroma”

Ocular oncology and pathology, 2021-03, Vol.7 (1), p.48-53

2021

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Should cardiac surgery be delayed among carriers of methicillin-resistant Staphylococcus aureus to reduce methicillin-resistant Staphylococcus aureus-related morbidity bv preoperative decolonisation?

European journal of cardio-thoracic surgery, 2011, Vol.39 (1), p.68-74

2011

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Should cardiac surgery be delayed among carriers of methicillin-resistant Staphylococcus aureus to reduce methicillin-resistant Staphylococcus aureus-related morbidity by preoperative decolonisation?

European journal of cardio-thoracic surgery, 2011-01, Vol.39 (1), p.68-74

2011

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Should cardiac surgery be delayed among carriers of methicillin-resistant Staphylococcus aureus to reduce methicillin-resistant Staphylococcus aureus-related morbidity by preoperative decolonisation?

European journal of cardio-thoracic surgery, 2010-01, Vol.39 (1), p.68-74

2010

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Ophthalmic manifestations of vitamin A and D deficiency in two autistic teenagers: case reports and a review of the literature

Case reports in ophthalmology, 2015, Vol.6 (1), p.24-29

2015

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Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases

The Early Treatment in Diabetic Retinopathy Study Chart Compared with the Tumbling-E and Landolt-C

Persistent pseudomyopia following a whiplash injury in a previously emmetropic woman

Direct Exchange of PerfluoroCarbon Liquid for Silicone Oil: A Surgical Technique to Control Pressure and Avoid Retinal Slippage

Usher Syndrome on the Island of Ireland: A Genotype-Phenotype Review

A clinical study of patients with novel CDHR1 genotypes associated with late-onset macular dystrophy

Iris-fixated phakic intraocular lens explantation

Investigating the Role of Optometrists in Teleophthalmology and the Implications of Increasing Access to Advanced Imaging Techniques and Digital Referral: A Systematic Search and Review

Corneal inlay implantation complicated by infectious keratitis

CERKL-Associated Retinal Dystrophy: Genetics, Phenotype, and Natural History

Long-term heavy silicone oil intraocular tamponade

CERKL-Associated Retinal Dystrophy

Persistent pseudomyopia following a whiplash injury in a previously emmetropic woman

Photoreceptors in health and monogenic disease: from half a billion years ago to the future

Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients

Target 5000: a standardized all-Ireland pathway for the diagnosis and management of inherited retinal degenerations

A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration

Ophthalmic Manifestations of Vitamin A and D Deficiency in Two Autistic Teenagers: Case Reports and a Review of the Literature

Social cognition in bipolar disorder versus schizophrenia: comparability in mental state decoding deficits

A Case Series of “Solitary Idiopathic Choroiditis” and Proposal of a Nomenclature Change to “Idiopathic Scleroma”

Should cardiac surgery be delayed among carriers of methicillin-resistant Staphylococcus aureus to reduce methicillin-resistant Staphylococcus aureus-related morbidity bv preoperative decolonisation?

Should cardiac surgery be delayed among carriers of methicillin-resistant Staphylococcus aureus to reduce methicillin-resistant Staphylococcus aureus-related morbidity by preoperative decolonisation?

Should cardiac surgery be delayed among carriers of methicillin-resistant Staphylococcus aureus to reduce methicillin-resistant Staphylococcus aureus-related morbidity by preoperative decolonisation?

Ophthalmic manifestations of vitamin A and D deficiency in two autistic teenagers: case reports and a review of the literature

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