Associated Papers
A comprehensive report of the clinical and mutational profiles of 30 Iranian malignant infantile osteopetrosis patients.
Amirfiroozy A et al.
Molecular and Cellular Probes, 2025
Structural and functional understanding of disease-associated mutations in V-ATPase subunit a1 and other isoforms.
Indrawinata K et al.
Frontiers in Molecular Neuroscience, 2023
Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants.
Liu C et al.
Bmc Medical Genomics, 2021
Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.
Sallevelt SCEH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
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