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Human Molecular Genetics|August 14, 2003
Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosisAlison T Merryweather-Clarke, Estelle Cadet, Adrian Bomford, et al.Haematologica|August 16, 2019
PIEZO1 activation delays erythroid differentiation of normal and hereditary xerocytosis-derived human progenitor cellsAlexis Caulier, Nicolas Jankovsky, Yohann Demont, et al.Neurology|October 19, 2012
PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraineRobin Cloarec, Nadine Bruneau, Gabrielle Rudolf, et al.Human Mutation|July 22, 2014
Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken SyndromeGilles Morin, Nadina Ortiz Bruechle, Amrathlal Rabbind Singh, et al.Cell Reports|July 27, 2012
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsionsHsien-Yang Lee, Yong Huang, Nadine Bruneau, et al.Pageof 5