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  1. Schmid Metaphyseal Chondrodysplasia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK547823
    ... SMCD Distinguishing from SMCD DNAJC21 EFL1 SBDS SRP54 Shwachman-Diamond syndrome AD AR 1 Short stature Metaphyseal widening & irregularities ... Schmid metaphyseal chondrodysplasia; MOI = mode of inheritance 1. Shwachman-Diamond syndrome (SDS) caused by pathogenic variants in DNAJC21 , EFL1 , ...
  2. CLPB Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK396257
    ... anemia; neutropenia occurs later DNAJC21 EFL1 SBDS SRP54 Shwachman-Diamond syndrome AR AD 5 Intestinal malabsorption due to exocrine ... al [2010] 4. Sarig et al [2013] 5. Shwachman-Diamond syndrome (SDS) caused by pathogenic variants in DNAJC21 , EFL1 , ...
  3. Resources for Genetics Professionals — Genes with Highly Homologous Gene Family Members or a Pseudogene(s) - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK535152
    ... SALL1P1 Townes-Brocks syndrome 75% SBDS 15 SBDSP Shwachman-Diamond syndrome 100% SDHA ≥ 4 pseudogenes Hereditary paraganglioma-pheochromocytoma syndromes ...
  4. Cystic Fibrosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1250
    ... infantile hyponatremic dehydration & hyperkalemia DNAJC21 EFL1 SBDS SRP54 Shwachman-Diamond syndrome (SDS) AR AD 25 Exocrine pancreatic dysfunction w/ ... History 8 August 2024 (aa) Revision: White-Sutton syndrome added to Differential Diagnosis 9 March ... Guidelines / Consensus Statements Barben J, Castellani C, ...
  5. NLM Digital Collections - Eponymous syndromes : MEDLARS indexing instructions 
    Publication: [Bethesda, Md..] : National Library of Medicine, Bibliographic Services Division, Index Section, 1970
    resource.nlm.nih.gov/0262340
    ... AUTONOMIC DYSFUNCTION (IM) AUTOSOME ABNORMALITIES if applicable Riley-Shwachman syndrome REFLEX, ABNORMAL (IM) GAIT (NIM) BONE DISEASES (IM) ...
  6. NLM Digital Collections - MEDLARS indexing and searching aids 
    Publication: Springfield, Va. : National Technical Information Service, 1972
    resource.nlm.nih.gov/0367351
    ... AUTONOMIC DYSFUNCTION (IM) AUTOSOME ABNORMALITIES if applicable Riley-Shwachman syndrome REFLEX, ABNORMAL (IM) GAIT (NIM) BONE DISEASES (IM) ...
  7. NLM Digital Collections - Health Care Reform (cont'd.) 
    https://resource.nlm.nih.gov/101662437X1584
    ... NORD - P.O. 8923 - New Fairfield, CT 06812 Shwachman-Diamond Syndrome Scientists studying the genetics of Shwachman- Diamond Syndrome are looking for affected fam- ilies willing to ...
  8. NLM Digital Collections - The pituitary-adrenocortical function : ACTH, cortisone and related compounds; a bibliography 
    Publication: Washington D. C. : Army Medical Library, 1950
    resource.nlm.nih.gov/59910400R
    ... pathologic states which develop in persons with Cushing's syndrome. 39 references. 1543. Hubble, D. Cushing's syndrome and thymic carcinoma. ... Ob- servations on the pathologic physiology of Cushing's syndrome. 51 references. 1576. McLetchie, N. G. B. On staining the ...
  9. NLM Digital Collections - Index-catalogue of the Library of the Surgeon General's Office, United States Army (Series 4, ... 
    Publication: Washington : U.S. G.P.O., 1936-1948
    resource.nlm.nih.gov/8104688X7
    ... 73-9.—Mayer, E. E. Hysteria; with special reference to the H-R syndrome of Kretschmer. Am. J. Psychiat., 1920-27, 6: ...
  10. Excluded studies - Cystic Fibrosis - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK535663
    ... in the protocol. Holsclaw, D. D., Rocmans, C., Shwachman, H., Abdominal complaints and appendiceal changes leading to ... 58, 1341–5, e699–704, 2012 Narrative review Shwachman, H., Redmond, A., Khaw, K. T., Studies in ...
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