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34 results
  1. G6PC3 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK285321
    ... neutropenia Cohen syndrome Glycogen storage disease type 1b Griscelli syndrome type 2 (OMIM 607624 ) Hermansky-Pudlak syndrome type ...
  2. X-Linked Lymphoproliferative Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1406
    ... often not identified in persons w/fHLH. RAB27A Griscelli syndrome type 2 (GS2) (OMIM 607624 ) AR Disorder of ... Database (XIAP) Mutation registry for X-linked lymphoproliferative syndrome ... from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  3. EPG5-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK584989
    ... AR Neurodevelopmental disabilities, dysplastic corpus callosum, immunodeficiency RAB27A Griscelli syndrome type 2 (OMIM 607624 ) AR Primary immunodeficiency w/ ...
  4. Oculocutaneous Albinism and Ocular Albinism Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK590568
    ... partial" OCA. Immunodeficiency & bleeding diathesis MLPH MYO5A RAB27A Griscelli syndrome(GS) (OMIM PS214450 ) <1% Skin hypopigmentation w/characteristic ...
  5. Skin Pigmentation Disorders | Hyperpigmentation | MedlinePlus 
    https://medlineplus.gov/skinpigmentationdisorders.html
    ... Degos disease: MedlinePlus Genetics (National Library of Medicine) Griscelli syndrome: MedlinePlus Genetics (National Library of Medicine) Hermansky-Pudlak ...
  6. Immune System and Disorders | Autoimmune Disease | MedlinePlus 
    https://medlineplus.gov/immunesystemanddisorders.html
    ... hemophagocytic lymphohistiocytosis: MedlinePlus Genetics (National Library of Medicine) Griscelli syndrome: MedlinePlus Genetics (National Library of Medicine) Hepatic veno- ...
  7. Trichohepatoenteric Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK475802
    ... click here . National Library of Medicine Genetics Home Reference Trichohepatoenteric syndrome Molecular Genetics Information in the Molecular Genetics and ...
  8. 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., 1955
    resource.nlm.nih.gov/8209738X1
    ... 5. SCALENUS syndrome. Barnes, H. A. Scalenus anticus syndrome, with reference to injuries of the thoracic duct; report of ... Brown, d! MiUtary neurology in India with especial reference to deficiency syndromes in ex-prisoners of war. J. Nerv. Ment. ...
  9. NLM Digital Collections - 5/2/1984-8/20/1984 
    https://resource.nlm.nih.gov/101637321X15
    ... six control homosexuals who now have AIDS or References immune deficiency syndrome (AIDS)—Califor- nia. MMWR 1982;31:652-654. ... Hospital, 322 rue Haute, B-1000 Brussels, elgium. References at foot of next ... IMMUNODEFICIENCY SYNDROME IN A HETEROSEXUAL POPULATION IN ZAIRE THOMAS C. ...
  10. NLM Digital Collections - AIDS Tracer M, 9/5/1984-9/28/1984 
    https://resource.nlm.nih.gov/101637321X17
    ... associated virus in pevents with AIDS or lymphadenopathy syndrome. Lencet 1984; i: 1253-56. References continued at foot of next column THELANCET, SEPTEMBER ], ...
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