Elzbieta Ciara

Warsaw, MZ, Poland

Last Updated: 09/26/2026

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Found 101 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

Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability.

Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability.

Journal: Balkan journal of medical genetics : BJMG
Published: May 18, 2026

PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases.

PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases.

Journal: Genes
Published: May 04, 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

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Journal: Genes
Published: November 30, 2025

Giant ascending aortic aneurysm in a 12-year-old boy with a novel missense variant in the LOX gene.

Giant ascending aortic aneurysm in a 12-year-old boy with a novel missense variant in the LOX gene.

Journal: Kardiologia polska
Published: October 16, 2025

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Journal: Genes
Published: August 20, 2025

Artificial intelligence in neurofibromatosis type I: diagnostic and therapeutic opportunities.

Artificial intelligence in neurofibromatosis type I: diagnostic and therapeutic opportunities.

Journal: Journal of applied genetics
Published: July 29, 2025

The Metabolic Consequences of Pathogenic Variant in FXYD2 Gene Encoding the Gamma Subunit of Sodium/Potassium-Transporting ATPase in Two Siblings with Sodium-Dependent Defect of Fructose, Galactose and Glucose Renal Reabsorption.

The Metabolic Consequences of Pathogenic Variant in FXYD2 Gene Encoding the Gamma Subunit of Sodium/Potassium-Transporting ATPase in Two Siblings with Sodium-Dependent Defect of Fructose, Galactose and Glucose Renal Reabsorption.

Journal: Genes
Published: March 25, 2025

Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review.

Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review.

Journal: Journal of applied genetics
Published: February 05, 2025

Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

Correction: Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.

Journal: PloS one
Published: January 30, 2025

Family report of Birk-Barel syndrome - a neurodevelopmental channelopathy with epigenetic signature.

Family report of Birk-Barel syndrome - a neurodevelopmental channelopathy with epigenetic signature.

Journal: Neurologia i neurochirurgia polska
Published: January 28, 2025
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Last Updated: 09/26/2026