Associated Papers
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali.
Yalcouyé A et al.
Hgg Advances, 2025
39663698 (PubMed )
Supplement: mmc3.pdf
Analysis of deficiency of adenosine deaminase 2 pathogenesis based on single-cell RNA sequencing of monocytes.
Watanabe N et al.
Journal of Leukocyte Biology, 2021
Molecular genetic diagnosis of Glanzmann syndrome in Iranian population; reporting novel and recurrent mutations.
Zafarghandi Motlagh F et al.
Orphanet Journal of Rare Diseases, 2019
Extensive functional analyses of RHD splice site variants: Insights into the potential role of splicing in the physiology of Rh.
Fichou Y et al.
Transfusion, 2015
Analysis of the CTNS gene in 32 cystinosis patients from Spain.
Macías-Vidal J et al.
Clinical Genetics, 2009
Select a paper to view details