Related Experiment Video

Updated: Mar 9, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.9K

A Baseline Algorithm for Molecular Diagnosis of Genetic Eye Diseases: Ophthalmologist's Perspective

Hande Taylan Şekeroğlu1, Gülen Eda Utine2, Mehmet Alikaşifoğlu3

  • 1Hacettepe University Faculty of Medicine, Department of Ophthalmology, Ankara, Turkey.

Turkish Journal of Ophthalmology
|January 5, 2017
PubMed
Abstract

No abstract available in PubMed .

Keywords:
Genetic eye diseasesgene therapymolecular diagnosis

More Related Videos

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.5K
Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
10:14

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

4.3K

Related Experiment Videos

Last Updated: Mar 9, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.9K
A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.5K
Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
10:14

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration

Published on: May 26, 2023

4.3K

Related Concept Videos

Genetic Screens02:46

Genetic Screens

5.8K
Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
5.8K

Articles linked to this work by shared authors, journal, and citation graph.

Distinct Clinical Presentations of Menke-Hennekam Syndrome: Insights From CREBBP and EP300 Variants.

Journal of child neurology·2026

Comprehensive Evaluation of Clinical, Developmental, Genetic, and Reproductive Characteristics of 133 Patients with Klinefelter Syndrome.

Molecular syndromology·2026

Beyond the Spectrum: A Case Report of Phelan-McDermid Syndrome and the Atypical Teratoid/Rhabdoid Tumor Co-Occurrence.

Molecular syndromology·2026

Multinodular and Vacuolating Neuronal Tumor in a Pediatric Patient with Klinefelter Syndrome and 5q33.1 Deletion: A Rare Clinical and Genetic Case Study.

Molecular syndromology·2026

A synonymous NPR2 variant causes acromesomelic dysplasia through aberrant pre-mRNA splicing.

Differentiation; research in biological diversity·2026

Correlation of visual function with semi-quantitative MRI findings in cerebral visual impairment.

European journal of ophthalmology·2026

The First Case Series of Malattia Leventinese/Doyne Honeycomb Retinal Dystrophy in Türkiye Identified with EFEMP1 Gene Mutation.

Turkish journal of ophthalmology·2026

Current Approaches in the Management of Complicated Macular Holes.

Turkish journal of ophthalmology·2026

Acute Effects of Caffeine on Ocular Functions in Young Adults.

Turkish journal of ophthalmology·2026

Clinical Patterns, Complications, and Long-Term Visual Outcomes of Fuchs' Uveitis Syndrome in Turkish Population: Retrospective Study in a Tertiary Uveitis Referral Center.

Turkish journal of ophthalmology·2026

The Turkish Adult Strabismus Quality of Life Questionnaire (AS-20): A Psychometric Validation Study.

Turkish journal of ophthalmology·2026

Surgical Outcomes and Histopathological Risk Factors in Periocular Basal Cell Carcinoma: A Single-Centre Study of 100 Patients.

Turkish journal of ophthalmology·2026

Prenatal environmental determinants of aromatase brain-promoter methylation in cord blood: chemical, airborne, pharmacological, and nutritional factors.

Environmental epigenetics·2026

Proximity-ligation metagenomics reveals differential plasmid and chromosomal antimicrobial resistance gene carriage in disrupted gut ecosystems.

iScience·2026

Intrinsic anti-tumorigenic properties of the skin epithelium promote cancer resistance in naked mole-rats.

iScience·2026

DVE-1 is a telomere-binding protein and links the NuRD complex to telomere regulation in C. elegans.

iScience·2026

DNA methylation profiling identifies long-range epigenetic silencing of clustered protocadherins as a key determinant of meningioma progression.

Nature communications·2026

Integrative Analysis of Nucleotide Metabolism-Related Genes Reveals a Diagnostic Signature and In Silico Functional Disruption in Hypertrophic Scarring.

Journal of burn care & research : official publication of the American Burn Association·2026
See all related articles
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies
Jove
Visualize
Contact Us