Georgia Thodi

Athens, ESYE31 15235, Greece

Last Updated: 09/26/2026

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Found 19 publications

Rare-ID: Genomic Diagnosis in Symptomatic Neonates and Young Infants with Complex Clinical Phenotypes: A Descriptive Cohort Study.

Rare-ID: Genomic Diagnosis in Symptomatic Neonates and Young Infants with Complex Clinical Phenotypes: A Descriptive Cohort Study.

Journal: Genes
Published: May 19, 2026

Dedifferentiated Cervical Mesonephric Adenocarcinoma: Report of 2 Cases of a Previously Undescribed Phenomenon.

Dedifferentiated Cervical Mesonephric Adenocarcinoma: Report of 2 Cases of a Previously Undescribed Phenomenon.

Journal: International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists
Published: October 08, 2025

Prevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program.

Prevalence of BRCA1/2 variants in an Ovarian Cancer Cohort: outcomes from a Nationwide Testing Program.

Journal: European journal of human genetics : EJHG
Published: September 17, 2025

A simplified metabolomic analysis of dried blood spots in breast cancer patients.

A simplified metabolomic analysis of dried blood spots in breast cancer patients.

Journal: Scandinavian journal of clinical and laboratory investigation
Published: September 03, 2024

Homologous Recombination Deficiency Score Determined by Genomic Instability in a Romanian Cohort.

Homologous Recombination Deficiency Score Determined by Genomic Instability in a Romanian Cohort.

Journal: Diagnostics (Basel, Switzerland)
Published: March 29, 2023

Perinatal Reduced Blood Concentrations of Free Carnitine and Acylcarnitines in Infants with Cystic Fibrosis.

Perinatal Reduced Blood Concentrations of Free Carnitine and Acylcarnitines in Infants with Cystic Fibrosis.

Journal: American journal of perinatology
Published: January 01, 2020

Identification of five mutations in a patient with galactose metabolic disorders.

Identification of five mutations in a patient with galactose metabolic disorders.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: October 24, 2017

Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.

Rare cases of galactose metabolic disorders: identification of more than two mutations per patient.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: July 05, 2017

Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.

Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.

Journal: Scandinavian journal of clinical and laboratory investigation
Published: June 24, 2017

Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.

Clinical evaluation and mutational analysis of GALK and GALE genes in patients with galactosemia in Greece: one novel mutation and two rare cases.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: February 10, 2017

Study of the effect of CYP2C19 polymorphisms on omeprazole pharmacokinetics by utilizing validated LC-MS/MS and Real Time-PCR methods.

Study of the effect of CYP2C19 polymorphisms on omeprazole pharmacokinetics by utilizing validated LC-MS/MS and Real Time-PCR methods.

Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences
Published: January 12, 2016

Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn.

Partial biotinidase deficiency: identification of a single novel mutation (p.H314R) in a Greek newborn.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: September 28, 2015
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Last Updated: 09/26/2026