Konstantina Kosma

Rimini 1 Str
Athens, ESYE31 12462, Greece

Last Updated: 09/26/2026

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Found 41 publications

Coexistence of a Novel OCRL Variant and a Pathogenic 16p11.2 Deletion in a Patient with Renal and Neurodevelopmental Manifestations Suggestive of Atypical Dent Disease Type 2-A Case Report.

Coexistence of a Novel OCRL Variant and a Pathogenic 16p11.2 Deletion in a Patient with Renal and Neurodevelopmental Manifestations Suggestive of Atypical Dent Disease Type 2-A Case Report.

Journal: Journal of clinical medicine

Published: May 25, 2026

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Discovery of a DNA methylation episignature for Weiss-Kruszka syndrome.

Journal: Human genetics

Published: February 10, 2026

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

Sleep-Disordered Breathing in Chung-Jansen Syndrome.

Journal: International journal of molecular sciences

Published: December 27, 2025

A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review.

A Novel Frameshift Variant and a Partial EHMT1 Microdeletion in Kleefstra Syndrome 1 Patients Resulting in Variable Phenotypic Severity and Literature Review.

Journal: Genes

Published: April 10, 2025

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

Journal: Clinical genetics

Published: April 05, 2025

"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations".

"Tuberous sclerosis in Greece: A national cohort study on clinical features and rare manifestations".

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: March 29, 2025

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Journal: European journal of human genetics : EJHG

Published: July 26, 2024

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.

Journal: Genes

Published: July 08, 2024

The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.

The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.

Journal: Genes

Published: July 08, 2024

Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.

Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.

Journal: European journal of human genetics : EJHG

Published: April 17, 2024

Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.

Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.

Journal: Children (Basel, Switzerland)

Published: April 12, 2024

SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.

SCN1A Channels a Wide Range of Epileptic Phenotypes: Report of Novel and Known Variants with Variable Presentations.

Journal: International journal of molecular sciences

Published: April 03, 2024

Showing 1-12 of 41

Last Updated: 09/26/2026