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Results 1 - 10 of 79 for Mitchell syndrome
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  1. Ornithine translocase deficiency 
    ... Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding ...
    https://medlineplus.gov/.../ornithine-translocase-deficiency - Genetics
  2. SLC25A15 gene 
    ... Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding ...
    https://medlineplus.gov/genetics/gene/slc25a15 - Genetics
  3. Trimethylaminuria 
    ... doi: 10.1002/humu.10252. Citation on PubMed Mitchell SC, Smith RL. Trimethylaminuria: the fish malodor syndrome. Drug Metab Dispos. 2001 Apr;29(4 Pt 2):517-21. Citation on PubMed Mitchell SC. Trimethylaminuria: susceptibility of heterozygotes. Lancet. 1999 Dec ...
    https://medlineplus.gov/genetics/condition/trimethylaminuria - Genetics
  4. SMAD4 gene 
    ... Legius E, Rustgi AK, Schelley SL, Tejpar S, Mitchell G, Drouin E, Westermann CJ, Marchuk DA. A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated ...
    https://medlineplus.gov/genetics/gene/smad4 - Genetics
  5. 49,XXXXY syndrome 
    ... Citation on PubMed Samango-Sprouse C, Lasutschinkow PC, Mitchell F, Porter GF, Hendrie P, Powell S, Sadeghin T, Gropman A. 49,XXXXY syndrome: A study of neurological function in this uncommon ...
    https://medlineplus.gov/genetics/condition/49xxxxy-syndrome - Genetics
  6. Sézary syndrome 
    ... S, Tosi I, Simpson MA, de Rinaldis E, Mitchell TJ, Whittaker SJ. Candidate driver genes involved in genome maintenance and DNA repair in Sezary syndrome. Blood. 2016 Jun 30;127(26):3387-97. ...
    https://medlineplus.gov/genetics/condition/sezary-syndrome - Genetics
  7. 3MC syndrome 
    ... JE, Wallis AK, Schwaeble WJ, El-Mezgueldi M, Mitchell DA, Moody PC, Wakamiya N, Wallis R. Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome. BMC Biol. 2015 Apr 17;13:27. doi: ...
    https://medlineplus.gov/genetics/condition/3mc-syndrome - Genetics
  8. Megacystis-microcolon-intestinal hypoperistalsis syndrome 
    ... Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF. A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet. 2015 Sep;23(9): ...
    https://medlineplus.gov/...colon-intestinal-hypoperistalsis-syndrome - Genetics
  9. COLEC11 gene 
    ... JE, Wallis AK, Schwaeble WJ, El-Mezgueldi M, Mitchell DA, Moody PC, Wakamiya N, Wallis R. Molecular basis of sugar recognition by collectin-K1 and the effects of mutations associated with 3MC syndrome. BMC Biol. 2015 Apr 17;13:27. doi: ...
    https://medlineplus.gov/genetics/gene/colec11 - Genetics
  10. Intestinal pseudo-obstruction 
    ... Couture F, Thiffault I, Ouazzani R, Samuels ME, Mitchell GA, Rouleau GA, Michaud JL, Soucy JF. A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome. Eur J Hum Genet. 2015 Sep;23(9): ...
    https://medlineplus.gov/.../condition/intestinal-pseudo-obstruction - Genetics
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