Ludmila Kousoulidou

Nicosia, 2371, Cyprus

Last Updated: 09/26/2026

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Found 15 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

Assessing concordance of genetic parameters between trophectoderm and inner cell mass in morphologically scored day-5 embryos via NGS.

Assessing concordance of genetic parameters between trophectoderm and inner cell mass in morphologically scored day-5 embryos via NGS.

Journal: Reproduction & fertility

Published: October 03, 2025

ASSESSING CONCORDANCE OF GENETIC PARAMETERS BETWEEN TROPHECTODERM AND INNER CELL MASS IN MORPHOLOGICALLY SCORED DAY-5 EMBRYOS VIA NGS.

ASSESSING CONCORDANCE OF GENETIC PARAMETERS BETWEEN TROPHECTODERM AND INNER CELL MASS IN MORPHOLOGICALLY SCORED DAY-5 EMBRYOS VIA NGS.

Journal: Reproduction & fertility

Published: October 03, 2025

Investigating the "Dark" Genome: First Report of Partington Syndrome in Cyprus.

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.

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

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

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Journal: Genes

Published: December 21, 2023

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene.

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene.

Journal: Molecular cytogenetics

Published: January 10, 2023

An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.

An unusual combination of an atypical maternally inherited novel 0.3 Mb deletion in Williams-Beuren region and a de novo 22q11.21 microduplication in an infant with supravalvular aortic stenosis.

Journal: European journal of medical genetics

Published: July 10, 2020

Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.

Novel pericentric inversion inv(9)(p23q22.3) in unrelated individuals with fertility problems in the Southeast European population.

Journal: Journal of human genetics

Published: November 28, 2019

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.

Two unrelated individuals carrying rare mosaic deletions in TCF4 gene.

Journal: American journal of medical genetics. Part A

Published: July 18, 2018

De novo mosaic MECP2 mutation in a female with Rett syndrome.

De novo mosaic MECP2 mutation in a female with Rett syndrome.

Journal: Clinical case reports

Published: June 04, 2018

Showing 1-12 of 15

Last Updated: 09/26/2026