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Mitchell syndrome
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- ... Almashanu S, Steel G, Casey R, Lambert M, Mitchell GA, Valle D. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding ...
- ... 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 ...
- ... 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 ...
- ... 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. ...
- ... 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: ...
- ... 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): ...
- ... 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): ...
- ... Citation on PubMed Bhuyan F, de Jesus AA, Mitchell J, Leikina E, ... Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory ...
- ... condition. 2q23.1 microdeletion syndrome 2q23.1 microduplication syndrome MAND MBD5 haploinsufficiency ... Hodge JC, Mitchell E, Pillalamarri V, Toler TL, Bartel F, Kearney ...
- ... gene in Tunisian families affected with Richner-Hanhart syndrome. Gene. 2013 Oct 15;529(1):45-9. doi: 10.1016/j.gene.2013.07.066. Epub 2013 Aug 13. Citation on PubMed Chinsky JM, Singh R, Ficicioglu C, van Karnebeek CDM, Grompe M, Mitchell G, Waisbren SE, Gucsavas-Calikoglu M, Wasserstein MP, ...