Violetta C. Anastasiadou
Nicosia, Cyprus
Last Updated: 09/26/2026
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Found 31 publications
YME1L1 Dysfunction Associated With 3-Methylglutaconic Aciduria.
Journal: Journal of inherited metabolic disease
Published: November 15, 2024
A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics.
Journal: Molecular genetics and metabolism reports
Published: September 23, 2024
The risk of a second primary cancer in PTEN Hamartoma Tumor Syndrome (PHTS).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 12, 2024
Inherited metabolic disorders in Cyprus.
Journal: Molecular genetics and metabolism reports
Published: February 09, 2024
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).
Journal: Cancers
Published: January 08, 2024
Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.
Journal: Genes
Published: December 21, 2023
GAA variants associated with reduced enzymatic activity but lack of Pompe-related symptoms, incidentally identified by exome sequencing.
Journal: Molecular genetics and metabolism reports
Published: June 07, 2023
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort.
Journal: European journal of medical genetics
Published: May 20, 2022
Last Updated: 09/26/2026