Jelmer Legebeke
4PUBLICATIONS
23CO-AUTHORS
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Publications (4)
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|Jan 29, 2025
A deep intronic PHEX variant associated with X-linked hypophosphatemia in a Finnish family.Laura Koponen, Minna Pekkinen, Jelmer Legebeke
|Nov 13, 2024
Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis.Jelmer Legebeke, Gabrielle Wheway, Lee Baker
|Aug 29, 2024
Loss-of-Function Variants in SUPT5H as Modifying Factors in Beta-Thalassemia.Cornelis L Harteveld, Ahlem Achour, Nik Fatma Fairuz Mohd Hasan
|Jan 12, 2021
A novel ACE2 isoform is expressed in human respiratory epithelia and is upregulated in response to interferons and RNA respiratory virus infection.Cornelia Blume, Claire L Jackson, Cosma Mirella Spalluto
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Frequent Collaborators
2 joint publications
Claire L Jackson
2 joint publications
Jane S Lucas
2 joint publications
Gabrielle Wheway
1 joint publications
Cornelia Blume
1 joint publications
Max Crispin
1 joint publications
Donna E Davies
1 joint publications
Vito Mennella
1 joint publications
Ahlem Achour
1 joint publications
Nik Fatma Fairuz Mohd Hasan
1 joint publications
Tamara T Koopmann
