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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 ...
- ... 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 ...
- ... 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: ...
- ... Citation on PubMed Bhuyan F, de Jesus AA, Mitchell J, Leikina E, ... Syndrome-Causing LPIN2 Mutations Link Bone Inflammation to Inflammatory ...
- ... Avanzo N, Lachance M, Pepin J, Dubeau F, Mitchell WG, Bello-Espinosa LE, ... of Lennox-Gastaut syndrome. Epilepsia. 2019 Sep;60(9):1881-1894. doi: ...
- ... sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nat Genet. 1995 Sep;11(1):76-82. doi: 10.1038/ng0995-76. Citation on PubMed Masilamani S, Kim GH, Mitchell C, Wade JB, Knepper MA. Aldosterone-mediated regulation ...
- ... V Leiden mutation are associated with Budd-Chiari syndrome. Eur J Gastroenterol Hepatol. 2006 Aug;18(8):917-20. doi: 10.1097/00042737-200608000-00019. Citation on PubMed Cutler JA, Patel R, Rangarajan S, Tait RC, Mitchell MJ. Molecular characterization of 11 novel mutations in ...
- ... 1135. Citation on PubMed Szabo Z, Crepeau MW, Mitchell AL, Stephan MJ, ... syndrome: a challenge for genotype-phenotype correlations. Hum Mol ...
- ... inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma ... E, Wortham NC, Hunt T, Mitchell M, Olpin S, Moat SJ, Hargreaves IP, Heales ...
- ... inherited endocrine tumours: lesson from the phaeochromocytoma-paraganglioma ... E, Wortham NC, Hunt T, Mitchell M, Olpin S, Moat SJ, Hargreaves IP, Heales ...