Constantia Aristidou
Nicosia, 2371, Cyprus
Last Updated: 09/26/2026
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Found 8 publications
Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.
Journal: Genes
Published: September 05, 2025
Identification of a novel, pathogenic CREBBP variant in a patient with Menke-Hennekam syndrome: a Case Report.
Journal: Frontiers in genetics
Published: February 28, 2025
Exploring the Genetic Causality of Discordant Phenotypes in Familial Apparently Balanced Translocation Cases Using Whole Exome Sequencing.
Journal: Genes
Published: October 27, 2022
Natural history of KBG syndrome in a large European cohort.
Journal: Human molecular genetics
Published: June 01, 2022
Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.
Journal: PloS one
Published: June 26, 2018
Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement.
Journal: Molecular cytogenetics
Published: January 22, 2018
Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.
Journal: PloS one
Published: September 21, 2016
Showing 1-8 of 8
Last Updated: 09/26/2026