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Nikolaos Marinakis

Assistant Professor of Genetics

Democritus University of Thrace

Greece

Research Interests

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Professors in Biostatistics

Articles (17)

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2026

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2025

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2025

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2025

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2025

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2023

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2023

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2023

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2023

Collaborators (21)

George Vartzelis

National and Kapodistrian University of Athens

GREECE

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Cleanthe Spanaki

Associate Professor

University of Crete School of Medicine

GREECE

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Aglaia Aigli Zellos

Associate Professor of Pediatric Gastroenterology

National and Kapodistrian University of Athens

GREECE

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Elisabeth Chroni

GREECE

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Mohmad Farooq Shaikh

Charles Sturt University

AUSTRALIA

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Pietro FERRARA

Professore Ordinario

Università Campus Bio-Medico di Roma

ITALY

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Luigi Maria Terracciano

Rector

Humanitas University

ITALY

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Georgios Koutsis

Associate Professor of Neurology and Neurogenetics

Ethniko kai Kapodistriako Panepistemio Athenon Iatrike Schole

GREECE

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Gabriela Elena Oprea

Lab director / Chief Operating Officer

GERMANY

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Neal Sondheimer

Medical Director

Children's Hospital of Eastern Ontario

CANADA

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Christalena Sofocleous

National and Kapodistrian University of Athens

GREECE

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Theresa Brunet

GERMANY

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Florentia Fostira

National Centre for Scientific Research-Demokritos

GREECE

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James Jepson

University College London

UNITED KINGDOM

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Adriana Erica Miele

Full Professor of Biochemistry and Biophysics

Université Claude Bernard Lyon 1

FRANCE

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Matias Wagner

Technical University of Munich

GERMANY

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roberta battini

University of Pisa

ITALY

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Henry Oppermann

staff scientist

University Hospital Leipzig

GERMANY

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Laura Pietrangelo

University of Chieti-Pescara

ITALY

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Maria Tzetis

National and Kapodistrian University of Athens

GREECE

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Jan Traeger-Synodinos

Professor (currently)

National and Kapodistrian University of Athens - Faculty of Medicine

GREECE

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Nikolaos Marinakis

Research Interests

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Articles (17)

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

A Novel <i>SIL1</i> Variant (p.E342K) Associated with Marinesco–Sjögren Syndrome Impairs Protein Stability and Function

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

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

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

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke

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

Alport Syndrome: Clinical Utility of Early Genetic Diagnosis in Children

Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier

Identification of a Novel <b><i>IQCE</i></b> Large Deletion through Copy Number Variant Analysis from Whole-Exome Sequencing Data of a Patient with Postaxial Polydactyly Type A7

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

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome

A Novel Variant of the <i>CYCS</i> Gene Alters Apoptosis of Megakaryocytes in a Family with Thrombocytopenia

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

Collaborators (21)

George Vartzelis

Cleanthe Spanaki

Aglaia Aigli Zellos

Elisabeth Chroni

Mohmad Farooq Shaikh

Pietro FERRARA

Luigi Maria Terracciano

Georgios Koutsis

Gabriela Elena Oprea

Neal Sondheimer

Christalena Sofocleous

Theresa Brunet

Florentia Fostira

James Jepson

Adriana Erica Miele

Matias Wagner

roberta battini

Henry Oppermann

Laura Pietrangelo

Maria Tzetis

Jan Traeger-Synodinos

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