Periklis Makrythanasis

Geneve, GE 1211, Switzerland

Last Updated: 09/26/2026

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Found 86 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

Peripheral T-Cell Receptor β Repertoire Dynamics Correlate with Response to Anti-PD-L1 Therapy in Non-Small Cell Lung Cancer.

Peripheral T-Cell Receptor β Repertoire Dynamics Correlate with Response to Anti-PD-L1 Therapy in Non-Small Cell Lung Cancer.

Journal: Cancers

Published: May 27, 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

Author Correction: The genetic architecture of Parkinson's disease on the Island of Crete.

Author Correction: The genetic architecture of Parkinson's disease on the Island of Crete.

Journal: NPJ Parkinson's disease

Published: January 21, 2026

Unraveling the genetic landscape of ALS in Greece: identification of known and novel causative variants in a 353-patient cohort.

Unraveling the genetic landscape of ALS in Greece: identification of known and novel causative variants in a 353-patient cohort.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: November 06, 2025

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis).

ERN GENTURIS guideline on counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis).

Journal: European journal of human genetics : EJHG

Published: October 22, 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

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

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

The genetic architecture of Parkinson's disease on the Island of Crete.

The genetic architecture of Parkinson's disease on the Island of Crete.

Journal: NPJ Parkinson's disease

Published: August 29, 2025

Genetic susceptibility in early-onset melanoma: An observational Greek cohort study.

Genetic susceptibility in early-onset melanoma: An observational Greek cohort study.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: July 29, 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

Showing 1-12 of 86

Last Updated: 09/26/2026