R. Maudinas

A case report of an acute coronary syndrome in a 10-year-old boy with homozygous familial hypercholesterolaemia

Y. Cottin, L. Lorgis, M. Farnier, 2020, European heart journal. Case reports.

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

J. Sarles, J. Hugot, N. Katsanis, 2018, American journal of human genetics.

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

J. Sarles, J. Hugot, N. Katsanis, 2017, bioRxiv.

Clinical severity and molecular characteristics of circulating and emerging rotaviruses in young children attending hospital emergency departments in France.

P. Pothier, J. Stéphan, A. de Rougemont, 2016, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.

Management of pancreatic, gastrointestinal and liver complications in adult cystic fibrosis.

A. Munck, F. Huet, M. Abély, 2015, Revue des maladies respiratoires.

Hepatitis-associated Aplastic Anemia

T. Leblanc, F. Huet, F. Lacaille, 2022, Journal of pediatric gastroenterology and nutrition.

Title : Clinical severity and molecular characteristics of circulating and 1 emerging rotaviruses in young children attending hospital emergency 2 departments in France

P. Pothier, J. Stéphan, D. Hober, 2016 .

Card15 gene overexpression in mononuclear and epithelial cells of the inflamed Crohn’s disease colon

J. Hugot, H. Zouali, F. Chareyre, 2003, Gut.

Management of eosinophilic esophagitis in children according to atopic status: A retrospective cohort in northeast of France.

C. Schweitzer, M. Ancellin, I. Clerc-Urmès, 2020, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.