Danai Veltra

Athens, ESYE31, Greece

Last Updated: 09/26/2026

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Found 21 publications

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

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

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

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

A programmed decline in ribosome levels governs human early neurodevelopment.

A programmed decline in ribosome levels governs human early neurodevelopment.

Journal: Nature cell biology

Published: May 01, 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

A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?

A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?

Journal: Genes

Published: March 08, 2024

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

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

Journal: European journal of human genetics : EJHG

Published: February 03, 2024

The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.

The Diverse Genomic Landscape of Diamond-Blackfan Anemia: Two Novel Variants and a Mini-Review.

Journal: Children (Basel, Switzerland)

Published: October 23, 2023

Showing 1-12 of 21

Last Updated: 09/26/2026