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Nature Genetics|August 30, 2008
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarityThomas Müller, Michael W Hess, Natalia Schiefermeier, et al.
Journal of Crohn'S & Colitis|March 26, 2021
Inflammatory Bowel Disease in Patients with Congenital Chloride DiarrhoeaLorenzo Norsa, Roberto Berni Canani, Remi Duclaux-Loras, 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.
American Journal of Human Genetics|February 3, 2009
Mutations in SPINT2 cause a syndromic form of congenital sodium diarrheaPeter Heinz-Erian, Thomas Müller, Birgit Krabichler, et al.
Medicine|August 18, 2017
Causes of hematochezia and hemorrhagic antibiotic-associated colitis in children and adolescentsLaura Stampfer, Andrea Deutschmann, Elisabeth Dür, et al.
Human Molecular Genetics|September 12, 2015
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrheaAndreas R Janecke, Peter Heinz-Erian, Jianyi Yin, et al.
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