Associated Papers
Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients.
Sokkar MF et al.
Journal, Genetic Engineering & Biotechnology, 2023
Druggable genomic landscapes of high-grade gliomas.
Ghanem P et al.
Frontiers in Medicine, 2023
38143440 (PubMed )
Supplement: Table_1.xlsx › ST5
Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.
Barbosa P et al.
Frontiers in Cardiovascular Medicine, 2022
36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6
CAMT-MPL: congenital amegakaryocytic thrombocytopenia caused by MPL mutations - heterogeneity of a monogenic disorder - a comprehensive analysis of 56 patients.
Germeshausen M et al.
Haematologica, 2021
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants.
Almazni I et al.
Human Mutation, 2020
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