Nikolaos M Marinakis

13PUBLICATIONS
64CO-AUTHORS
Ship and platform structures (incl. maritime hydrodynamics)Disease surveillanceGene expression (incl. microarray and other genome-wide approaches)Infant and child healthNeurogenetics
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Publications (13)

|Dec 11, 2025
A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.

Anna Giulia Ruggieri, Nikolaos M Marinakis, Laura Amodei

|Jun 23, 2025
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity.

Nikolaos M Marinakis, Afrodite Kampouraki, Danai Veltra

|Nov 03, 2024
Estimating at-risk couple rates across 1000 exome sequencing data cohort for 176 genes and its importance relevance for health policies.

Nikolaos M Marinakis, Faidon-Nikolaos Tilemis, Danai Veltra

|Aug 29, 2024
Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children.

Vasileia Christodoulaki, Konstantina Kosma, Nikolaos M Marinakis

|Jul 26, 2024
Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.

Dana E Layo-Carris, Emily E Lubin, Annabel K Sangree

|Jun 27, 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.

Danai Veltra, Nikolaos M Marinakis, Ioannis Kotsios

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Frequent Collaborators

8 joint publications

Joanne Traeger-Synodinos

7 joint publications

Danai Veltra

7 joint publications

Christalena Sofocleous

4 joint publications

Kyriaki Kekou