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Results 1 - 10 of 24 for SI
  1. Congenital sucrase-isomaltase deficiency 
    ... affected. Variants (also known as mutations) in the SI gene cause congenital sucrase-isomaltase deficiency. The SI gene provides instructions for producing the enzyme sucrase- ...
    https://medlineplus.gov/.../congenital-sucrase-isomaltase-deficiency - Genetics
  2. Osteoglophonic dysplasia 
    ... 1007/BF01644343. Citation on PubMed Farrow EG, Davis SI, Mooney SD, Beighton P, Mascarenhas L, Gutierrez YR, ... on PubMed Central White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, ...
    https://medlineplus.gov/genetics/condition/osteoglophonic-dysplasia - Genetics
  3. Freeman-Sheldon syndrome 
    ... PubMed Bell KM, Huang A, Kronert WA, Bernstein SI, Swank DM. Prolonged myosin binding increases muscle stiffness ... WA, Guo Y, Hsu KH, Sarsoza F, Bernstein SI. Reductions in ATPase activity, actin sliding velocity, and ...
    https://medlineplus.gov/genetics/condition/freeman-sheldon-syndrome - Genetics
  4. Stevens-Johnson syndrome/toxic epidermal necrolysis 
    ... Free article on PubMed Central Chung WH, Hung SI, Yang JY, Su SC, Huang SP, Wei CY, ... Nov 23. Citation on PubMed Chung WH, Hung SI. Recent advances in the genetics and immunology of ...
    https://medlineplus.gov/...hnson-syndrome-toxic-epidermal-necrolysis - Genetics
  5. Friedreich ataxia 
    ... hmg/11.16.1865. Citation on PubMed Bidichandani SI, Delatycki MB, Napierala M, Duquette A. Friedreich Ataxia. ... PubMed Chutake YK, Costello WN, Lam C, Bidichandani SI. Altered nucleosome positioning at the transcription start site ...
    https://medlineplus.gov/genetics/condition/friedreich-ataxia - Genetics
  6. Purine nucleoside phosphorylase deficiency 
    ... Somech R, Lev A, Grisaru-Soen G, Shiran SI, Simon AJ, Grunebaum E. Purine nucleoside phosphorylase deficiency ...
    https://medlineplus.gov/...urine-nucleoside-phosphorylase-deficiency - Genetics
  7. Beta-propeller protein-associated neurodegeneration 
    ... HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, ...
    https://medlineplus.gov/...ller-protein-associated-neurodegeneration - Genetics
  8. Alpha-N-acetylgalactosaminidase deficiency 
    ... Citation on PubMed Sakuraba H, Matsuzawa F, Aikawa SI, Doi H, Kotani M, Nakada H, Fukushige T, ...
    https://medlineplus.gov/...lpha-n-acetylgalactosaminidase-deficiency - Genetics
  9. Palmoplantar keratoderma with deafness 
    ... 1017/S1462399409001276. Citation on PubMed Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC. ...
    https://medlineplus.gov/.../palmoplantar-keratoderma-with-deafness - Genetics
  10. Deafness-infertility syndrome 
    ... books/NBK22925/ Citation on PubMed Nishio SY, Usami SI. Frequency of the STRC-CATSPER2 deletion in STRC- ...
    https://medlineplus.gov/.../condition/deafness-infertility-syndrome - Genetics
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