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Docosahexaenoic acid in ARSACS: observations in two patients

BMC neurology, 2020-05, Vol.20 (1), p.215-215, Article 215

2020

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A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice

Orphanet journal of rare diseases, 2023-07, Vol.18 (1), p.223-223, Article 223

2023

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Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?

International journal of molecular sciences, 2022-07, Vol.23 (14), p.7825

2022

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The New Era of Therapeutic Strategies for the Treatment of Retinitis Pigmentosa: A Narrative Review of Pathomolecular Mechanisms for the Development of Cell-Based Therapies

Biomedicines, 2023-09, Vol.11 (10), p.2656

2023

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Treatment of Inherited Retinal Dystrophies with Somatic Cell Therapy Medicinal Product: A Review

Life (Basel, Switzerland), 2022-05, Vol.12 (5), p.708

2022

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Novel RDH12 sequence variations in Leber congenital amaurosis

Journal of AAPOS, 2010-08, Vol.14 (4), p.349-351

2010

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Optical Coherence Tomography Significance in Managing Early Onset of Optic Pathway Gliomas in Children Younger than 5 Years of Age—A Retrospective Study

Children (Basel), 2022-08, Vol.9 (9), p.1307

2022

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Optical coherence tomography significance in managing complex neurofibromatosis 2-related papilledema: Report of a case

JRSM open, 2021-01, Vol.12 (1), p.2054270420981454

2021

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Airway stenting in a child with spondyloepiphyseal dysplasia congenita: 13-year survival

International journal of pediatric otorhinolaryngology, 2017-08, Vol.99, p.13-16

2017

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Case report of an atypical early onset X-linked retinoschisis in monozygotic twins

BMC ophthalmology, 2017-02, Vol.17 (1), p.19-19, Article 19

2017

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Visual assessment in Down Syndrome: The relevance of early visual functions

Early human development, 2019-04, Vol.131, p.21-28

2019

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Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases

Ophthalmic genetics, 2024-04, p.1-5

2024

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Clinical and molecular studies in two new cases of ARSACS

Neurogenetics, 2019-03, Vol.20 (1), p.45-49

2019

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Unusual presentation of early-onset X-linked retinoschisis: Report after 1 year of multimodal follow-up

European journal of ophthalmology, 2021-05, Vol.31 (3), p.NP60-NP64

2021

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Microperimetry assessment in foveal hypoplasia: functional results in a series of pediatric patients

Canadian journal of ophthalmology, 2024-02, Vol.59 (1), p.e61-e66

2024

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The efficacy of biofeedback visual rehabilitation therapy in patients with infantile nystagmus syndrome: A retrospective study

European journal of ophthalmology, 2021-07, Vol.31 (4), p.2101-2106

2021

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Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos

Ophthalmic genetics, 2020-01, Vol.41 (1), p.49-56

2020

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Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy

Ophthalmic genetics, 2015-06, Vol.36 (2), p.168-174

2015

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BEST1 sequence variants in Italian patients with vitelliform macular dystrophy

Molecular vision, 2012-11, Vol.18, p.2736-2748

2012

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Optical coherence tomography significance in managing complex neurofibromatosis 2-related papilledema: Report of a case

JRSM open, 2021, Vol.12 (1), p.2054270420981454-2054270420981454

2021

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Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos

Ophthalmic Genetics, 2020, Vol.41 (1), p.49-56

2020

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Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy

Ophthalmic Genetics, 2015, Vol.36 (2), p.168-174

2015

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In Vitro Effects of Tea Tree Oil (Melaleuca Alternifolia Essential Oil) and its Principal Component Terpinen-4-ol on Swine Spermatozoa

Molecules (Basel, Switzerland), 2019-03, Vol.24 (6), p.1071

2019

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Effects on the incidence of cardiovascular events of the addition of pioglitazone versus sulfonylureas in patients with type 2 diabetes inadequately controlled with metformin (TOSCA.IT): a randomised, multicentre trial

The lancet. Diabetes & endocrinology, 2017-11, Vol.5 (11), p.887-897

2017

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Hair Testosterone and Cortisol Concentrations in Pre- and Post-Rut Roe Deer Bucks: Correlations with Blood Levels and Testicular Morphometric Parameters

Animals (Basel), 2018-07, Vol.8 (7), p.113

2018

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Docosahexaenoic acid in ARSACS: observations in two patients

A multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice

Expanding the Spectrum of Oculocutaneous Albinism: Does Isolated Foveal Hypoplasia Really Exist?

The New Era of Therapeutic Strategies for the Treatment of Retinitis Pigmentosa: A Narrative Review of Pathomolecular Mechanisms for the Development of Cell-Based Therapies

Treatment of Inherited Retinal Dystrophies with Somatic Cell Therapy Medicinal Product: A Review

Novel RDH12 sequence variations in Leber congenital amaurosis

Optical Coherence Tomography Significance in Managing Early Onset of Optic Pathway Gliomas in Children Younger than 5 Years of Age—A Retrospective Study

Optical coherence tomography significance in managing complex neurofibromatosis 2-related papilledema: Report of a case

Airway stenting in a child with spondyloepiphyseal dysplasia congenita: 13-year survival

Case report of an atypical early onset X-linked retinoschisis in monozygotic twins

Visual assessment in Down Syndrome: The relevance of early visual functions

Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases

Clinical and molecular studies in two new cases of ARSACS

Unusual presentation of early-onset X-linked retinoschisis: Report after 1 year of multimodal follow-up

Microperimetry assessment in foveal hypoplasia: functional results in a series of pediatric patients

The efficacy of biofeedback visual rehabilitation therapy in patients with infantile nystagmus syndrome: A retrospective study

Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos

Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy

BEST1 sequence variants in Italian patients with vitelliform macular dystrophy

Optical coherence tomography significance in managing complex neurofibromatosis 2-related papilledema: Report of a case

Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos

Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy

In Vitro Effects of Tea Tree Oil (Melaleuca Alternifolia Essential Oil) and its Principal Component Terpinen-4-ol on Swine Spermatozoa

Effects on the incidence of cardiovascular events of the addition of pioglitazone versus sulfonylureas in patients with type 2 diabetes inadequately controlled with metformin (TOSCA.IT): a randomised, multicentre trial

Hair Testosterone and Cortisol Concentrations in Pre- and Post-Rut Roe Deer Bucks: Correlations with Blood Levels and Testicular Morphometric Parameters

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