Marios Tomazou

6 Iroon Avenue
Nicosia, 2371, Cyprus

Last Updated: 09/26/2026

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Found 32 publications

Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing.

Discovery of Causative Genetic Variants in Patients with Congenital and/or Developmental Anomalies by Exome Sequencing.

Journal: Genes

Published: May 29, 2026

Congenital Adrenal Hyperplasia in the Mediterranean: A Concise Overview.

Congenital Adrenal Hyperplasia in the Mediterranean: A Concise Overview.

Journal: Pharmaceuticals (Basel, Switzerland)

Published: April 07, 2026

Serum and serum-derived extracellular vesicle microRNA signatures linked to neurodevelopmental processes in central precocious puberty.

Serum and serum-derived extracellular vesicle microRNA signatures linked to neurodevelopmental processes in central precocious puberty.

Journal: Frontiers in endocrinology

Published: March 13, 2026

TPI1 and TPM4 are strong candidate RNA biomarkers for systemic sclerosis.

TPI1 and TPM4 are strong candidate RNA biomarkers for systemic sclerosis.

Journal: Arthritis research & therapy

Published: October 31, 2025

H-SPAR DB: human spaceflight platform for analysis and research-an integrative omics database for space health.

H-SPAR DB: human spaceflight platform for analysis and research-an integrative omics database for space health.

Journal: Database : the journal of biological databases and curation

Published: July 11, 2025

Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.

Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.

Journal: International journal of molecular sciences

Published: November 25, 2024

Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.

Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.

Journal: Acta neuropathologica communications

Published: October 14, 2024

Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing.

Fetal genetic factors in pregnancy loss: Insights from a meta-analysis and effectiveness of whole exome sequencing.

Journal: PloS one

Published: September 11, 2024

Identification of puberty related miRNAs in the hypothalamus of female mice.

Identification of puberty related miRNAs in the hypothalamus of female mice.

Journal: Molecular and cellular endocrinology

Published: September 10, 2024

RFC1 Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease Controls.

RFC1 Repeat Distribution in the Cypriot Population: Study of a Large Cohort of Patients With Undiagnosed Ataxia and Non-Disease Controls.

Journal: Neurology. Genetics

Published: November 17, 2023

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.

A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report.

Journal: BMC medical genomics

Published: October 31, 2023

Context base editing for splice correction of IVSI-110 β-thalassemia.

Context base editing for splice correction of IVSI-110 β-thalassemia.

Journal: Molecular therapy. Nucleic acids

Published: October 04, 2023

Showing 1-12 of 32

Last Updated: 09/26/2026