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Journal Article
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Journal Article
Ophthalmology, ISSN 0161-6420, 12/2018, Volume 125, Issue 12, pp. 1953 - 1960
To describe the phenotypic spectrum of a large cohort of albino patients, to investigate the relationship between the ocular abnormalities and the visual... 
INFANTILE NYSTAGMUS | ASYMMETRY | OPTICAL COHERENCE TOMOGRAPHY | OCULOCUTANEOUS ALBINISM | CONGENITAL NYSTAGMUS | OPHTHALMOLOGY | FOVEAL HYPOPLASIA | PREVALENCE | BIRTH | MUTATION SPECTRUM | Albinism
Journal Article
Retina, ISSN 0275-004X, 2017
PURPOSE: To evaluate the long-term clinical course and visual outcome of patients with choroideremia. METHODS: Clinical examination, a social questionnaire,... 
Journal Article
Retina (Philadelphia, Pa.), ISSN 0275-004X, 2017
To evaluate the long-term clinical course and visual outcome of patients with choroideremia. Clinical examination, a social questionnaire, and medical records... 
Journal Article
Ophthalmology, ISSN 0161-6420, 2017, Volume 124, Issue 6, pp. 884 - 895
Journal Article
Retina (Philadelphia, Pa.), ISSN 0275-004X, 06/2019, Volume 39, Issue 6, pp. 1186 - 1199
To describe the phenotype and clinical course of patients with RPGR-associated retinal dystrophies, and to identify genotype-phenotype correlations. A... 
Journal Article
Retina, ISSN 0275-004X, 09/2015, Volume 35, Issue 9, pp. e57 - e58
Journal Article
Retina, ISSN 0275-004X, 09/2015, Volume 35, Issue 9, pp. e57 - e58
Journal Article
Ophthalmology, ISSN 0161-6420, 2017, Volume 124, pp. 884 - 895
PURPOSE: To describe the phenotype, long-term clinical course, clinical variability, and genotype of patients with CRB1-associated retinal dystrophies. DESIGN:... 
Journal Article
Journal Article
Retina (Philadelphia, Pa.), ISSN 0275-004X, 2015, Volume 35, Issue 9, pp. e57 - e58
Journal Article
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 09/2014, Volume 134, Issue 9, pp. 2331 - 8
Gamma-glutamyl carboxylase (GGCX) mutations have been reported in patients with a pseudoxanthoma elasticum (PXE)-like phenotype, loose redundant skin, and... 
Journal Article
Ophthalmology, ISSN 0161-6420, 2013, Volume 120, Issue 4, pp. 809 - 820
Objective To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB). Design Retrospective case series.... 
Ophthalmology | Neurosciences
Journal Article
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