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Clinical utility gene card for: acrodermatitis enteropathica.
Küry S, Kharfi M, Schmitt S, Bézieau S. Küry S, et al. Among authors: schmitt s. Eur J Hum Genet. 2012 Mar;20(3). doi: 10.1038/ejhg.2011.227. Epub 2011 Dec 14. Eur J Hum Genet. 2012. PMID: 22166942 Free PMC article. No abstract available.
Clinical zinc deficiency as early presentation of Wilson disease.
Van Biervliet S, Küry S, De Bruyne R, Vanakker OM, Schmitt S, Vande Velde S, Blouin E, Bézieau S. Van Biervliet S, et al. Among authors: schmitt s. J Pediatr Gastroenterol Nutr. 2015 Apr;60(4):457-9. doi: 10.1097/MPG.0000000000000628. J Pediatr Gastroenterol Nutr. 2015. PMID: 25825851
Acrodermatitis enteropathica: a review of 29 Tunisian cases.
Kharfi M, El Fékih N, Aounallah-Skhiri H, Schmitt S, Fazaa B, Küry S, Kamoun MR. Kharfi M, et al. Among authors: schmitt s. Int J Dermatol. 2010 Sep;49(9):1038-44. doi: 10.1111/j.1365-4632.2010.04566.x. Int J Dermatol. 2010. PMID: 20883266
Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.
Baurand A, Falcon-Eicher S, Laurent G, Villain E, Bonnet C, Thauvin-Robinet C, Jacquot C, Eicher JC, Gourraud JB, Schmitt S, Bézieau S, Giraud M, Dumont S, Kuentz P, Probst V, Burguet A, Kyndt F, Faivre L. Baurand A, et al. Among authors: schmitt s. Am J Med Genet A. 2017 Feb;173(2):531-536. doi: 10.1002/ajmg.a.38045. Epub 2016 Nov 21. Am J Med Genet A. 2017. PMID: 27868338 Review.
1,255 results