Mutations in KIF21A are responsible for CFEOM1 worldwide

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

medRxiv : the preprint server for health sciences·2026

Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria.

American journal of medical genetics. Part A·2026

Risk of Ocular Comorbidities in Patients With Inherited Retinal Diseases.

Ophthalmic surgery, lasers & imaging retina·2026

Prevalence of Strabismus and Decreased Stereopsis in Parents of Children with Strabismus.

Ophthalmology·2026

Implementation and Assessment of a Novel Interprofessional Educational Initiative in the Medical Intensive Care Unit: A Mixed-Methods Evaluation.

ATS scholar·2026

Longitudinal Changes of Fundus Autofluorescence and Correlation With Visual Acuity in ABCA4-Associated Stargardt Disease.

Investigative ophthalmology & visual science·2026

Bilateral sclerocornea in an infant with molecularly confirmed Van den Ende-Gupta syndrome due to a recurrent SCARF2 founder variant: a case report and review of ophthalmic manifestations.

Ophthalmic genetics·2026

Identifying causal genetic markers and cellular mechanisms in diabetic retinopathy through single-cell sc-eQTL analysis and Mendelian randomization.

Ophthalmic genetics·2026

Three novel variants in the UBAP1L gene lead to a generalized retinal dystrophy.

Ophthalmic genetics·2026

Autosomal recessive retinopathy (ARRP) associated with a novel variant in NR2E3 gene.

Ophthalmic genetics·2026

Bardet-Biedl syndrome in a Chinese patient with a novel homozygous BBS5 variant from paternal uniparental disomy.

Ophthalmic genetics·2026

Choroidal melanoma and polydactylous onychopapilloma leading to diagnosis of BAP1 tumor predisposition syndrome.

Ophthalmic genetics·2026

Absorption tail analysis by spectroscopic ellipsometry: a reduced-parameter approach to electric field characterization in GaN.

Optics express·2026

Unified analytical-numerical modeling and experimental validation of 3D cat-eye echo fields under turbulence and oblique incidence.

Optics express·2026

Conditions and Limits of Calibration-Free Magnetic-Field Measurement: A Minimal Model with In Situ Augmented-Reality Visualization for Wireless Power Transfer.

Sensors (Basel, Switzerland)·2026

Bending-Aware Spectrogram Correlation for W-Band Quadcopter Detection: A Physics-Informed Non-Coherent Detection Framework.

Sensors (Basel, Switzerland)·2026

Pseudomonas aeruginosa: a model system for studying the behavior of unbiased flagellar motors.

Journal of bacteriology·2026

Beyond SERS Hotspot Localization: Metal-Dielectric Hybrid Metasurfaces with Coupled LSPR Enable Highly Reproducible, Label-Free Prostate-Specific Antigen Detection.

Nano letters·2026

Related Experiment Videos

Mutations in KIF21A are responsible for CFEOM1 worldwide

Related Concept Videos

Structural variant discovery and diagnostic impact in rare diseases from short-read and long-read sequencing.

Streamlining Diagnosis of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria.

Risk of Ocular Comorbidities in Patients With Inherited Retinal Diseases.

Prevalence of Strabismus and Decreased Stereopsis in Parents of Children with Strabismus.

Implementation and Assessment of a Novel Interprofessional Educational Initiative in the Medical Intensive Care Unit: A Mixed-Methods Evaluation.

Longitudinal Changes of Fundus Autofluorescence and Correlation With Visual Acuity in ABCA4-Associated Stargardt Disease.

Bilateral sclerocornea in an infant with molecularly confirmed Van den Ende-Gupta syndrome due to a recurrent SCARF2 founder variant: a case report and review of ophthalmic manifestations.

Identifying causal genetic markers and cellular mechanisms in diabetic retinopathy through single-cell sc-eQTL analysis and Mendelian randomization.

Three novel variants in the UBAP1L gene lead to a generalized retinal dystrophy.

Autosomal recessive retinopathy (ARRP) associated with a novel variant in NR2E3 gene.

Bardet-Biedl syndrome in a Chinese patient with a novel homozygous BBS5 variant from paternal uniparental disomy.

Choroidal melanoma and polydactylous onychopapilloma leading to diagnosis of BAP1 tumor predisposition syndrome.

Absorption tail analysis by spectroscopic ellipsometry: a reduced-parameter approach to electric field characterization in GaN.

Unified analytical-numerical modeling and experimental validation of 3D cat-eye echo fields under turbulence and oblique incidence.

Conditions and Limits of Calibration-Free Magnetic-Field Measurement: A Minimal Model with In Situ Augmented-Reality Visualization for Wireless Power Transfer.

Bending-Aware Spectrogram Correlation for W-Band Quadcopter Detection: A Physics-Informed Non-Coherent Detection Framework.

Pseudomonas aeruginosa: a model system for studying the behavior of unbiased flagellar motors.

Beyond SERS Hotspot Localization: Metal-Dielectric Hybrid Metasurfaces with Coupled LSPR Enable Highly Reproducible, Label-Free Prostate-Specific Antigen Detection.

Related Experiment Videos

Mutations in KIF21A are responsible for CFEOM1 worldwide

Related Concept Videos

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