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Euro Surveillance : Bulletin Europeen Sur Les Maladies Transmissibles = European Communicable Disease Bulletin|June 1, 2023
Severe and fatal neonatal infections linked to a new variant of echovirus 11, France, July 2022 to April 2023Mathilde Grapin, Audrey Mirand, Didier Pinquier, et al.Journal of Medical Genetics|January 23, 2013
Asphyxiating thoracic dysplasia: clinical and molecular review of 39 familiesGeneviève Baujat, Céline Huber, Joyce El Hokayem, 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.Clinical Genetics|February 8, 2022
Systemic inflammatory syndrome in children with FARSA deficiencyFabienne Charbit-Henrion, Roman Goguyer-Deschaumes, Keren Borensztajn, 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.Journal of Inherited Metabolic Disease|March 13, 2026
Acute Neurological Complications After Transplantation in Methylmalonic Acidemia: A 35-Patient French CohortAdélaïde Vissac, Eugénie Sarda, Charles-Joris Roux, et al.Transplantation|January 30, 2025
Should We Transplant Candidates With a Positive SARS-CoV-2 RT-PCR Test?Ilies Benotmane, Nathan Kasriel, Christophe Masset, et al.Hepatology Communications|May 16, 2018
Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficienciesLaura N Bull, Ludmila Pawlikowska, Sandra Strautnieks, et al.Journal of Inherited Metabolic Disease|June 25, 2026
Long Term Follow-Up After Transplantation in Propionic Acidemia: A Retrospective French Pediatric and Adult Cohort StudyTristan Mekdade, Claire-Marine Bérat, Manuel Schiff, et al.Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver|November 3, 2020
Long term results of liver transplantation for alpha-1 antitrypsin deficiencyOlivier Guillaud, Emmanuel Jacquemin, Eduardo Couchonnal, et al.Pageof 15