Jelmer Legebeke

Tremona Road
Southampton, ENG SO166YD, United Kingdom

Last Updated: 09/26/2026

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Found 9 publications

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition.

Biallelic Germline Inactivation of HROB Causes Primary Gonadal Insufficiency and is Potentially Associated with Colonic Polyposis Predisposition.

Journal: American journal of medical genetics. Part A

Published: November 19, 2025

Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.

Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.

Journal: International journal of molecular sciences

Published: July 04, 2024

Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis.

Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis.

Journal: Human molecular genetics

Published: April 15, 2024

Blood gene expression predicts intensive care unit admission in hospitalised patients with COVID-19.

Blood gene expression predicts intensive care unit admission in hospitalised patients with COVID-19.

Journal: Frontiers in immunology

Published: July 07, 2022

Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia.

Temporal Whole-Transcriptomic Analysis of Characterized In Vitro and Ex Vivo Primary Nasal Epithelia.

Journal: Frontiers in cell and developmental biology

Published: March 29, 2022

Evaluating the Immune Response in Treatment-Naive Hospitalised Patients With Influenza and COVID-19.

Evaluating the Immune Response in Treatment-Naive Hospitalised Patients With Influenza and COVID-19.

Journal: Frontiers in immunology

Published: January 12, 2022

A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection.

A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection.

Journal: Nature genetics

Published: July 26, 2020

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies.

Journal: Human genetics

Published: April 23, 2020

In vivo selection of sfGFP variants with improved and reliable functionality in industrially important thermophilic bacteria.

In vivo selection of sfGFP variants with improved and reliable functionality in industrially important thermophilic bacteria.

Journal: Biotechnology for biofuels

Published: August 18, 2017

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Last Updated: 09/26/2026