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British Journal of Haematology, ISSN 0007-1048, 03/2019, Volume 184, Issue 5, pp. 710 - 711
Journal Article
Journal Article
Annales de Biologie Clinique, ISSN 0003-3898, 07/2018, Volume 76, Issue 4, pp. 435 - 438
Journal Article
BRITISH JOURNAL OF HAEMATOLOGY, ISSN 0007-1048, 07/2018, Volume 182, Issue 1, pp. 114 - 124
Shwachman-Diamond syndrome (SDS) is a rare multi-organ recessive disease mainly characterised by pancreatic insufficiency, skeletal defects, short stature and... 
PECAM-1 | Shwachman-Diamond syndrome | STEM-CELLS | childhood | MICROENVIRONMENT | angiogenesis | mesenchymal stromal cells | bone marrow niche | HEMATOLOGY | BRAIN | PERICYTES
Journal Article
British Journal of Haematology, ISSN 0007-1048, 07/2018, Volume 182, Issue 1, pp. 114 - 124
Journal Article
Terapevticheskiǐ arkhiv, ISSN 0040-3660, 2014, Volume 86, Issue 2, pp. 72 - 75
Journal Article
ISSN 2212-4926, 2018
Mutations that target the ubiquitous process of ribosome assembly paradoxically cause diverse tissue-specific disorders (ribosomopathies) that are often... 
SBDS | ribosome | Shwachman-Diamond syndrome | eIF6 | DNAJC21 | myelodysplastic syndromes
Journal Article
Pancreas, ISSN 0885-3177, 05/2015, Volume 44, Issue 4, pp. 590 - 595
Journal Article
Expert Opinion on Orphan Drugs, ISSN 2167-8707, 10/2017, Volume 5, Issue 10, pp. 753 - 767
Introduction: Shwachman-Diamond Syndrome (SDS) is a rare autosomal recessive disease due to mutations in the SBDS and DNAJC21 genes, both involved in ribosome... 
bone marrow failure | leukemia | Shwachman-Diamond syndrome | DNAJC21 | SBDS | ribosomopathies | HSCT | GUANINE-NUCLEOTIDE EXCHANGE | RIBOSOME BIOGENESIS | MYELODYSPLASTIC SYNDROME | PHARMACOLOGY & PHARMACY | ISOCHROMOSOME I(Q10) | STEM-CELL TRANSPLANTATION | SBDS GENE | APLASTIC-ANEMIA | BONE-MARROW FAILURE | PANCREATIC INSUFFICIENCY | HEMATOPOIETIC STEM
Journal Article
Haematologica, ISSN 0390-6078, 09/2012, Volume 97, Issue 9, pp. 1312 - 1319
Journal Article
11/2009
Anemia occurs in 60% of patients with Shwachman Diamond Syndrome (SDS). Although bi-allelic mutations in SBDS cause SDS, it is unclear whether SBDS is critical... 
Erythropoiesis | 0379 | Shwachman Diamond Syndrome
Dissertation
Journal Article
FRONTIERS IN ONCOLOGY, ISSN 2234-943X, 08/2019, Volume 9
Shwachman-Diamond syndrome (SDS) is a rare and systemic disease mostly caused by mutations in the SBDS gene and characterized by pancreatic insufficiency,... 
leukemia | Shwachman-Diamond syndrome | pediatric patient | cooperating mutation | ONCOLOGY | predisposition syndrome | ACUTE MYELOID-LEUKEMIA | SOMATIC MUTATIONS | molecular profiling
Journal Article
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