Faidon-nikolaos Tilemis

Athens, ESYE31 11527, Greece

Last Updated: 09/26/2026

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Found 17 publications

A Comprehensive Pipeline for the Use of Short Read Next-Generation Sequencing (SR-NGS) in CYP21A2 Diagnostic Genotyping.

A Comprehensive Pipeline for the Use of Short Read Next-Generation Sequencing (SR-NGS) in CYP21A2 Diagnostic Genotyping.

Journal: Current issues in molecular biology

Published: June 29, 2026

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

A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.

A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.

Journal: International journal of molecular sciences

Published: October 01, 2025

IL-1R/IL-6R blockade for null NLRP12 variant-carrying Takayasu arteritis.

IL-1R/IL-6R blockade for null NLRP12 variant-carrying Takayasu arteritis.

Journal: Rheumatology (Oxford, England)

Published: June 26, 2025

Insights into the heterogeneity of oculopharyngeal muscular dystrophy.

Insights into the heterogeneity of oculopharyngeal muscular dystrophy.

Journal: Neurogenetics

Published: May 20, 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

Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family.

Clinical and Structural Characterization of a Novel TGFBI Mutation Linked to a Lattice Corneal Dystrophy Variant in a Greek Family.

Journal: American journal of ophthalmology

Published: September 07, 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

Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy.

Motor phenotyping in a Greek cohort of patients with neonatal and infantile onset developmental and epileptic encephalopathy.

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

Published: July 06, 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

Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.

Retrospective analysis of persistent HyperCKemia with or without muscle weakness in a case series from Greece highlights vast DMD variant heterogeneity.

Journal: Expert review of molecular diagnostics

Published: September 27, 2023

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.

Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.

Journal: Genes

Published: June 20, 2023

Showing 1-12 of 17

Last Updated: 09/26/2026