Associated Papers
Structural Implications of Missense Point Mutations in Shwachman-Bodian-Diamond Syndrome Protein (SBDS): A Combined SAXS/MD Investigation.
Mattiotti G et al.
Acs Omega, 2025
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
41383606 (PubMed )
Supplement: Table1.xlsx › Arkusz1
Case Report: Heterozygous Germline Variant in EIF6 Additional to Biallelic SBDS Pathogenic Variants in a Patient With Ribosomopathy Shwachman-Diamond Syndrome.
Taha I et al.
Frontiers in Genetics, 2022
Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman-Diamond Syndrome Subjects.
Frattini A et al.
International Journal of Molecular Sciences, 2021
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