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
Genetic Manifestations and Phenotype Spectrum in Infants With Feeding Difficulty.
Han M et al.
Molecular Genetics & Genomic Medicine, 2024
Hematologic complications with age in Shwachman-Diamond syndrome.
Furutani E et al.
Blood Advances, 2022
Somatic genetic rescue of a germline ribosome assembly defect.
Tan S et al.
Nature Communications, 2021
34413298 (PubMed )
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