Associated Papers
Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.
Veltra D et al.
Children (basel, Switzerland), 2024
Defective ribosome assembly in Shwachman-Diamond syndrome.
Wong CC et al.
Blood, 2011
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E et al.
Journal of Medical Genetics, 2011
A novel mutation in a Fijian boy with Shwachman-Diamond syndrome.
Newman AR et al.
Journal of Pediatric Hematology/oncology, 2009
Conformational flexibility and molecular interactions of an archaeal homologue of the Shwachman-Bodian-Diamond syndrome protein.
Ng CL et al.
Bmc Structural Biology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.
Shammas C et al.
The Journal of Biological Chemistry, 2005
Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E et al.
Blood Cells, Molecules & Diseases, 0
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