Ewelina M. Olech-Bukowska

Rokietnicka 8 Street
Poznan, WP 60608, Poland

Last Updated: 09/26/2026

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Found 44 publications

LMNA p.Arg225Ter-related cardiomyopathy in long term survivor of diffuse large B-cell lymphoma presenting with reduced left ventricular ejection fraction, conduction disease, atrial tachyarrythmias and recurrent thromboembolism.

LMNA p.Arg225Ter-related cardiomyopathy in long term survivor of diffuse large B-cell lymphoma presenting with reduced left ventricular ejection fraction, conduction disease, atrial tachyarrythmias and recurrent thromboembolism.

Journal: Kardiologia polska

Published: July 07, 2026

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.

Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.

Journal: International journal of molecular sciences

Published: January 02, 2026

Cinacalcet therapy in symptomatic 11-year-old girl with familial hypocalciuric hypercalcemia type 3.

Cinacalcet therapy in symptomatic 11-year-old girl with familial hypocalciuric hypercalcemia type 3.

Journal: Pediatric nephrology (Berlin, Germany)

Published: October 10, 2025

Cardiovascular Safety of Bruton Tyrosine Kinase Inhibitors: From Ibrutinib to Next-Generation Agents.

Cardiovascular Safety of Bruton Tyrosine Kinase Inhibitors: From Ibrutinib to Next-Generation Agents.

Journal: American journal of cardiovascular drugs : drugs, devices, and other interventions

Published: July 27, 2025

Cardiac Computed Tomography for the Assessment of Myocardial Bridging: A Scoping Review of the Emerging Role of Artificial Intelligence and Machine Learning.

Cardiac Computed Tomography for the Assessment of Myocardial Bridging: A Scoping Review of the Emerging Role of Artificial Intelligence and Machine Learning.

Journal: Journal of cardiovascular development and disease

Published: May 19, 2025

Recent advances in the diagnosis and molecular pathogenesis of holoprosencephaly: a review.

Recent advances in the diagnosis and molecular pathogenesis of holoprosencephaly: a review.

Journal: Journal of applied genetics

Published: April 26, 2025

The Complexity of Oxidative Stress in Human Age-Related Diseases-A Review.

The Complexity of Oxidative Stress in Human Age-Related Diseases-A Review.

Journal: Metabolites

Published: April 26, 2025

Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.

Upstream SOX9 deletion in a 46,XY girl with acampomelic campomelic dysplasia and absent minipuberty.

Journal: Orphanet journal of rare diseases

Published: April 07, 2025

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.

Journal: EBioMedicine

Published: October 08, 2024

Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.

Fibrodysplasia ossificans progressiva: genetic and clinical characterization in a cohort of Polish patients and review of potential therapies.

Journal: Journal of applied genetics

Published: July 30, 2024

From chromosomal aberrations to mutations in individual genes - the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages.

From chromosomal aberrations to mutations in individual genes - the significance of genetic studies of chorions after miscarriage in the search for causes of miscarriages.

Journal: The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians

Published: July 28, 2024

Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.

Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.

Journal: Pediatric nephrology (Berlin, Germany)

Published: September 11, 2023

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Last Updated: 09/26/2026