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Transplantation|September 19, 2023
Endoscopic Surveillance of the Intestinal Allograft: Recommendations From the Intestinal Rehabilitation and Transplant Association Working GroupJennifer Garcia, Mihai Oltean, Carolina Rumbo, et al.
Frontiers in Genetics|February 13, 2024
Recurrent "outsider" intronic variation in the SLC5A6 gene causes severe mixed axonal and demyelinating neuropathy, cyclic vomiting and optic atrophy in 3 families from MaghrebLamisse Mansour-Hendili, Cyril Gitiaux, Madeleine Harion, et al.
The Journal of Allergy and Clinical Immunology|September 2, 2014
Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiencyRoxane Lemoine, Jana Pachlopnik-Schmid, Henner F Farin, et al.
Molecular Genetics and Metabolism Reports|January 21, 2021
Enteral tube feeding in patients receiving dietary treatment for metabolic diseases: A retrospective analysis in a large French cohortClaire-Marine Bérat, Célina Roda, Anais Brassier, 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.
Frontiers in Endocrinology|July 11, 2022
Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 MutationsCaroline de Gouveia Buff Passone, Gaëlle Vermillac, Willem Staels, et al.
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