Rafal Ploski

Pawinskiego 3c Str
Warsaw, MZ 02106, Poland

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 408 publications

Cardiovascular involvement and outcomes in Marfan syndrome: new observations on evolving aortic risk associations in a single-center cohort from Poland.

Cardiovascular involvement and outcomes in Marfan syndrome: new observations on evolving aortic risk associations in a single-center cohort from Poland.

Journal: Polish archives of internal medicine

Published: July 09, 2026

"Eye-Conic" Spatial Transcriptomics Reveals the Layer-Specific Molecular Alterations in Corneas of Patients With Keratoconus.

"Eye-Conic" Spatial Transcriptomics Reveals the Layer-Specific Molecular Alterations in Corneas of Patients With Keratoconus.

Journal: Investigative ophthalmology & visual science

Published: April 03, 2026

Common and Distinct Features in Serum Proteomic Profiles in Keratoconus, Post-Laser Vision Correction Ectasia, and Pellucid Marginal Degeneration.

Common and Distinct Features in Serum Proteomic Profiles in Keratoconus, Post-Laser Vision Correction Ectasia, and Pellucid Marginal Degeneration.

Journal: Investigative ophthalmology & visual science

Published: March 11, 2026

Expanding the phenotypic spectrum of RYBP-related neurodevelopmental disorder: report of the ninth patient worldwide.

Expanding the phenotypic spectrum of RYBP-related neurodevelopmental disorder: report of the ninth patient worldwide.

Journal: Neurologia i neurochirurgia polska

Published: March 07, 2026

TANGO2-related metabolic encephalopathy-arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report.

TANGO2-related metabolic encephalopathy-arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report.

Journal: BMC pediatrics

Published: March 05, 2026

PAK1 (p21-Activated Kinase 1) and Its Role in Neurodevelopmental Disorders-New Case Report and a Comprehensive Review.

PAK1 (p21-Activated Kinase 1) and Its Role in Neurodevelopmental Disorders-New Case Report and a Comprehensive Review.

Journal: International journal of molecular sciences

Published: October 31, 2025

Inter-Eye Molecular Discrepancies in the Corneal Epithelium Point to TFRC in the Keratoconus Severity Signature and Mechanism of Cone Formation.

Inter-Eye Molecular Discrepancies in the Corneal Epithelium Point to TFRC in the Keratoconus Severity Signature and Mechanism of Cone Formation.

Journal: Investigative ophthalmology & visual science

Published: October 29, 2025

Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia.

Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia.

Journal: Frontiers in neurology

Published: October 19, 2025

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

CEP76 impairment at the centrosome-cilium interface contributes to a spectrum of ciliopathies.

Journal: Science advances

Published: October 17, 2025

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement.

Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement.

Journal: Clinical case reports

Published: October 16, 2025

A sensory and motor neuropathy caused by a genetic variant of NAMPT.

A sensory and motor neuropathy caused by a genetic variant of NAMPT.

Journal: Science advances

Published: September 26, 2025

Evaluation of targeted Massively Parallel Sequencing methods for forensic metagenomics.

Evaluation of targeted Massively Parallel Sequencing methods for forensic metagenomics.

Journal: Applied microbiology and biotechnology

Published: September 19, 2025

Showing 1-12 of 408

Last Updated: 09/26/2026