Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
MicroRNAs in β-thalassemia.
Wang F et al.
The American Journal of the Medical Sciences, 2021
Identification of deleterious SNPs and their effects on BCL11A, the master regulator of fetal hemoglobin expression.
Das SS et al.
Genomics, 2020
Mutation allele burden remains unchanged in chronic myelomonocytic leukaemia responding to hypomethylating agents.
Merlevede J et al.
Nature Communications, 2016
26908133 (PubMed )
Supplement: ncomms10767-s2.xls › Feuille1
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