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46 results
  1. ... protein SBDS SBDS database SBDSbase: Mutation registry for Shwachman-Diamond syndrome SBDS SBDS SRP54 14q13 ​.2 Signal recognition particle subunit SRP54 SRP54 SRP54 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  2. ... of Diabetes and Digestive and Kidney Diseases) Genetics Shwachman-Diamond syndrome: ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  3. ... Primary myelofibrosis: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  4. ... posted live 17 February 2009 (hg) Original submission ... anaemia and Shwachman-Diamond syndrome. Br J Haematol. 1999; 107 :49– ...
  5. ... 1993] Review Majeed Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. El-Shanti H, ... Syndrome. [GeneReviews(®). 1993] Review Shwachman-Diamond Syndrome. ...
  6. ... lymphocytic leukemia; HHM = hereditary hematologic malignancies; MDS = myelodysplastic syndrome. References Arber DA, Orazi A, Hasserjian RP, et al.: ...
  7. ... name><other_name >SDS</other_name><other_name >Shwachman syndrome</other_name><other_name >Shwachman-Bodian syndrome</other_name><other_name >Shwachman-Bodian-Diamond syndrome</ ...
  8. ... to short-term side effect shoulder blade shunt Shwachman syndrome Shwachman-Diamond syndrome sialic acid sialyl Tn-KLH sibling sickle cell ...
  9. ... NOP10 , PARN , RTEL1 , TERC , TERT , TINF2 , and WRAP53 . Shwachman-Diamond syndrome, Diamond-Blackfan anemia, and other bone marrow failure ... such as Fanconi anemia, severe congenital neutropenia, and Shwachman-Diamond syndrome, or a germline predisposition syndrome that confers higher ...
  10. ... aside from MDS/AML DNAJC21 ELF1 SBDS SRP54 Shwachman-Diamond syndrome 9 AD AR 1%-5% Childhood to adult ... Short stature is seen in many conditions including Shwachman-Diamond syndrome, Fanconi anemia, and MIRAGE syndrome Microcephaly is seen ...
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