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- 2024
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Mark
Hypoaldosteronism due to a novel SEC61A1 variant successfully treated with fludrocortisone
- Contribution to journal › Article
- 2023
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Mark
Elucidation of the low-expressing erythroid CR1 phenotype by bioinformatic mining of the GATA1-driven blood-group regulome
- Contribution to journal › Article
- 2020
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Mark
Disruption of the tumour-associated EMP3 enhances erythroid proliferation and causes the MAM-negative phenotype
- Contribution to journal › Article
- 2019
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Mark
Missense mutations in the C-terminal portion of the B4GALNT2-encoded glycosyltransferase underlying the Sd(a−) phenotype
- Contribution to journal › Article
- 2018
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Mark
Disruption of a GATA-1 binding motif 3.7 KB upstream of the XG/PBDX gene abolishes erythroid Xga expression and elucidates the last unresolved blood group system
(2018) 35th international congress of the International Society of Blood Transfusion, ISBT, 2018 In Vox Sanguinis 113(S1). p.62-63
- Contribution to journal › Published meeting abstract
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Mark
GBGT1 is allelically diverse but dispensible in humans and naturally-occurring anti-FORS1 shows an ABO-restricted pattern
(2018) 35th international congress of the International Society of Blood Transfusion, ISBT, 2018 In Vox Sanguinis 113(S1). p.63-64
- Contribution to journal › Published meeting abstract
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Mark
A molecular mechanism underlying the P1/P2 phenotypes: allele-selective RUNX1 binding regulates P1 blood group status by transcriptional control of A4GALT
(2018) 35th international congress of the International Society of Blood Transfusion, ISBT, 2018 In Vox Sanguinis 113(S1). p.251-252
- Contribution to journal › Published meeting abstract
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Mark
Allele-selective RUNX1 binding regulates P1 blood group status by transcriptional control of A4GALT
- Contribution to journal › Article
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Mark
Thorough analysis of unorthodox ABO deletions called by the 1000 Genomes project
- Contribution to journal › Article
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Mark
Disruption of a GATA1-binding motif upstream of XG/PBDX abolishes Xga expression and resolves the Xg blood group system
- Contribution to journal › Article
