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Results 1 - 10 of 388 for AHS
  1. Autosomal recessive hypotrichosis 
    ... not show signs and symptoms of the condition. AH Autosomal recessive localized hypotrichosis Autosomal recessive woolly hair ...
    https://medlineplus.gov/.../autosomal-recessive-hypotrichosis - Genetics
  2. AIP gene 
    ... from a parent who never developed an adenoma. AH receptor-interacting protein AIP_HUMAN ARA9 FKBP16 FKBP37 ...
    https://medlineplus.gov/genetics/gene/aip - Genetics
  3. Dihydropyrimidine dehydrogenase deficiency 
    ... AB, Atrak TM, Abdul-Jabbar MA, Van Gennip AH. Dihydropyrimidine dehydrogenase deficiency presenting at birth. J Inherit ... van Kuilenburg AB, De Abreu RA, van Gennip AH. Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency. ...
    https://medlineplus.gov/...ihydropyrimidine-dehydrogenase-deficiency - Genetics
  4. DPYD gene 
    ... AB, Atrak TM, Abdul-Jabbar MA, Van Gennip AH. Dihydropyrimidine dehydrogenase deficiency presenting at birth. J Inherit ... van Kuilenburg AB, De Abreu RA, van Gennip AH. Pharmacogenetic and clinical aspects of dihydropyrimidine dehydrogenase deficiency. ...
    https://medlineplus.gov/genetics/gene/dpyd - Genetics
  5. Familial hemophagocytic lymphohistiocytosis 
    ... PubMed or Free article on PubMed Central Filipovich AH. The expanding spectrum of hemophagocytic lymphohistiocytosis. Curr Opin ... T, Johnson J, Jordan MB, Bleesing JJ, Filipovich AH, Zhang K. STX11 mutations and clinical phenotypes of ...
    https://medlineplus.gov/...milial-hemophagocytic-lymphohistiocytosis - Genetics
  6. ACTA1 gene 
    ... MM, Iannaccone ST, Crawford TO, Laing NG, Beggs AH. Heterogeneity of nemaline myopathy cases with skeletal muscle ... Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ. Mutations and polymorphisms of the skeletal ...
    https://medlineplus.gov/genetics/gene/acta1 - Genetics
  7. Actin-accumulation myopathy 
    ... Mitrani-Rosenbaum S, Twomey D, Sparrow JC, Beggs AH, Nowak KJ. Mutations and polymorphisms of the skeletal ... Swoboda KJ, Vigneron J, Wallgren-Pettersson C, Beggs AH, Laing NG. Mutations in the skeletal muscle alpha- ...
    https://medlineplus.gov/.../condition/actin-accumulation-myopathy - Genetics
  8. Von Willebrand disease 
    ... doi: 10.1080/07853890701513738. Citation on PubMed James AH, Jamison MG. Bleeding events and other complications during ... Citation on PubMed Nichols WL, Hultin MB, James AH, Manco-Johnson MJ, Montgomery RR, Ortel TL, Rick ...
    https://medlineplus.gov/genetics/condition/von-willebrand-disease - Genetics
  9. Centronuclear myopathy 
    ... KS, Allcock RJ, Laing NG, Perrella MA, Beggs AH. SPEG interacts with myotubularin, and its deficiency causes ... J, Markianos K, Fairbrother WG, Granzier H, Beggs AH. Recessive truncating titin gene, TTN, mutations presenting as ...
    https://medlineplus.gov/genetics/condition/centronuclear-myopathy - Genetics
  10. X-linked lymphoproliferative disease 
    ... B, Jordan MB, Bleesing JJ, Zhang K, Filipovich AH. XIAP deficiency: a unique primary immunodeficiency best classified ... D, Risma KA, Jordan MB, Bleesing JJ, Filipovich AH. Patients with X-linked lymphoproliferative disease due to ...
    https://medlineplus.gov/.../x-linked-lymphoproliferative-disease - Genetics
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