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American Journal of Human Genetics|March 27, 2012
SKIV2L mutations cause syndromic diarrhea, or trichohepatoenteric syndromeAlexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, et al.
The American Journal of Clinical Nutrition|April 1, 2016
Outcome of home parenteral nutrition in 251 children over a 14-y period: report of a single centerElie Abi Nader, Cécile Lambe, Cécile Talbotec, et al.
The American Journal of Clinical Nutrition|February 8, 2013
Intestinal absorption rate in children after small intestinal transplantationFelipe Ordonez, Laurence Barbot-Trystram, Florence Lacaille, et al.
Hepatology (Baltimore, Md.)|December 31, 2013
MYO5B and bile salt export pump contribute to cholestatic liver disorder in microvillous inclusion diseaseMuriel Girard, Florence Lacaille, Virginie Verkarre, et al.
Pediatrics|January 2, 2004
A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cellsFrédéric Bernard, Capucine Picard, Valérie Cormier-Daire, et al.
Archives of Disease in Childhood|October 11, 2013
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndromeAlexandre Fabre, Anne Breton, Marie-Edith Coste, et al.
Annals of Nutrition & Metabolism|June 9, 2012
Documentation of functional and clinical effects of infant nutrition: setting the scene for COMMENTBerthold Koletzko, Hania Szajewska, Margaret Ashwell, et al.
Human Mutation|February 27, 2010
Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell modelFrank M Ruemmele, Thomas Müller, Natalia Schiefermeier, et al.
Human Genetics|October 22, 2013
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic formJulie Salomon, Olivier Goulet, Danielle Canioni, et al.
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