Associated Papers
Functional profiling of serine, threonine and tyrosine sites.
Li Y et al.
Nature Chemical Biology, 2025
Shwachman-Diamond Syndrome and Diabetes: An Update from the Italian Registry and Review of the Literature.
Minelli A et al.
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association, 2025
Hematologic complications with age in Shwachman-Diamond syndrome.
Furutani E et al.
Blood Advances, 2022
34758064 (PubMed )
Supplement: advancesADV2021005539-suppl1.pdf
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
Warren AJ
Advances in Biological Regulation, 2018
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR et al.
Journal of Pediatric Hematology/oncology, 2009
Compound heterozygous mutations of the SBDS gene in a patient with Shwachman-Diamond syndrome, type 1 diabetes mellitus and osteoporosis.
Rosendahl J et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2006
Identification of novel mutations in patients with Shwachman-Diamond syndrome.
Nicolis E et al.
Human Mutation, 2005
Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0
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