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Results 1 - 10 of 55 for SI
  1. SI gene 
    The SI gene provides instructions for producing the enzyme sucrase-isomaltase. This enzyme is made in the cells that ...
    https://medlineplus.gov/genetics/gene/si - Genetics
  2. 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
  3. 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
  4. ETFDH gene 
    ... TRANSFER FLAVOPROTEIN DEHYDROGENASE; ETFDH NCBI Gene ClinVar Goodman SI, Binard RJ, Woontner MR, Frerman FE. Glutaric acidemia ... Citation on PubMed Spector EB, Seltzer WK, Goodman SI. Assignment of electron transfer flavoprotein-ubiquinone oxidoreductase (ETF- ...
    https://medlineplus.gov/genetics/gene/etfdh - Genetics
  5. 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
  6. 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
  7. 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
  8. FGFR1 gene 
    ... Free article on PubMed Central Farrow EG, Davis SI, Mooney SD, Beighton P, Mascarenhas L, Gutierrez YR, ... Citation on PubMed White KE, Cabral JM, Davis SI, Fishburn T, Evans WE, Ichikawa S, Fields J, ...
    https://medlineplus.gov/genetics/gene/fgfr1 - Genetics
  9. AGPAT2 gene 
    ... Arioglu E, De Almeida S, Akkoc N, Taylor SI, Bowcock AM, Barnes RI, Garg A. AGPAT2 is ...
    https://medlineplus.gov/genetics/gene/agpat2 - Genetics
  10. 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
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