Stickler syndrome: clinical care and molecular genetics

A Health-Related Quality of Life Measure for Patients Who Undergo Minimally Invasive Glaucoma Surgery.

American journal of ophthalmology·2024

Shifts in ophthalmic care utilization during the COVID-19 pandemic in the US.

Communications medicine·2023

United States Population Disparities in Ophthalmic Care: Blindness and Visual Impairment in the IRIS® Registry (Intelligent Research in Sight).

Ophthalmology·2023

EXTERNAL DRAINAGE OF SUBRETINAL FLUID DURING RHEGMATOGENOUS RETINAL DETACHMENT REPAIR.

Retina (Philadelphia, Pa.)·2021

Reoperation Rates of Patients Undergoing Primary Noncomplex Retinal Detachment Surgery in a Cohort of the IRIS Registry.

American journal of ophthalmology·2020

Endophthalmitis after Cataract Surgery in the United States: A Report from the Intelligent Research in Sight Registry, 2013-2017.

Ophthalmology·2019

Early Versus Delayed Pegcetacoplan Treatment for Geographic Atrophy Secondary to Age-Related Macular Degeneration in OAKS, DERBY, and GALE.

American journal of ophthalmology·2026

Incidence and Risk Factors of Glaucoma in a Health Screening Cohort: Findings Over 10 Years from the Gangnam Eye Cohort Study.

American journal of ophthalmology·2026

Repeat Gene Expression Profiling, PRAME Status, and Next-Generation Sequencing Testing in Uveal Melanoma Undergoing Secondary Therapy.

American journal of ophthalmology·2026

Central Serous Chorioretinopathy in patients with preexisting immune-mediated disorders: MICRoN report 21.

American journal of ophthalmology·2026

Peripheral Retinal Vascular Biomarkers on Ultra-Widefield OCT Angiography for Severity Grading in Retinitis Pigmentosa.

American journal of ophthalmology·2026

Outcomes of Strabismus Procedures in Children with Perinatal Brain Injury.

American journal of ophthalmology·2026

[Autism - Phenotypic variability].

Medicina·2026

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

Neurogenetics·2026

A Novel Mutation in ACTG1 as the Probable Cause of Nonsyndromic Hearing Loss in Chinese Han Population.

Neural plasticity·2026

Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate.

Frontiers in genetics·2026

Two Novel Compound Heterozygous CDH23 Mutations Underlying Non-Syndromic Hearing Loss.

International journal of general medicine·2026

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Molecular genetics & genomic medicine·2026

Related Experiment Videos

Stickler syndrome: clinical care and molecular genetics

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A Health-Related Quality of Life Measure for Patients Who Undergo Minimally Invasive Glaucoma Surgery.

Shifts in ophthalmic care utilization during the COVID-19 pandemic in the US.

United States Population Disparities in Ophthalmic Care: Blindness and Visual Impairment in the IRIS® Registry (Intelligent Research in Sight).

EXTERNAL DRAINAGE OF SUBRETINAL FLUID DURING RHEGMATOGENOUS RETINAL DETACHMENT REPAIR.

Reoperation Rates of Patients Undergoing Primary Noncomplex Retinal Detachment Surgery in a Cohort of the IRIS Registry.

Endophthalmitis after Cataract Surgery in the United States: A Report from the Intelligent Research in Sight Registry, 2013-2017.

Early Versus Delayed Pegcetacoplan Treatment for Geographic Atrophy Secondary to Age-Related Macular Degeneration in OAKS, DERBY, and GALE.

Incidence and Risk Factors of Glaucoma in a Health Screening Cohort: Findings Over 10 Years from the Gangnam Eye Cohort Study.

Repeat Gene Expression Profiling, PRAME Status, and Next-Generation Sequencing Testing in Uveal Melanoma Undergoing Secondary Therapy.

Central Serous Chorioretinopathy in patients with preexisting immune-mediated disorders: MICRoN report 21.

Peripheral Retinal Vascular Biomarkers on Ultra-Widefield OCT Angiography for Severity Grading in Retinitis Pigmentosa.

Outcomes of Strabismus Procedures in Children with Perinatal Brain Injury.

[Autism - Phenotypic variability].

Significant differences in phenotype and age of onset in an SPG4 family caused by whole SPAST deletion combined with a hemizygous S44L modifier.

A Novel Mutation in ACTG1 as the Probable Cause of Nonsyndromic Hearing Loss in Chinese Han Population.

Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate.

Two Novel Compound Heterozygous CDH23 Mutations Underlying Non-Syndromic Hearing Loss.

Biallelic VPS41 Variants in Autosomal Recessive Spinocerebellar Ataxia 29 Resolved by Long-Read Sequencing and RNA Analysis.

Related Experiment Videos

Stickler syndrome: clinical care and molecular genetics

Related Concept Videos

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