Transient neonatal renal failure and massive polyuria in MEGDEL syndrome

by Carole Harbulot, Stéphanie Paquay, Imen Dorboz, Samia Pichard, Agnès Bourillon, Jean-François Benoist, Claude Jardel, Hélène Ogier de Baulny, Odile Boespflug-Tanguy, Manuel Schiff
Published 2016-06-01

A Large French Case-Control Study Emphasizes the Role of Rare Mc1R Variants in Melanoma Risk

by Hui-Han Hu, Mériem Benfodda, Nicolas Dumaz, Steven Gazal, Vincent Descamps, Agnès Bourillon, Nicole Basset-Seguin, Angélique Riffault, Khaled Ezzedine, Martine Bagot, Armand Bensussan, Philippe Saiag, Bernard Grandchamp, Nadem Soufir
Published 2014-01-01

QIL1 mutation causes MICOS disassembly and early onset fatal mitochondrial encephalopathy with liver disease

by Virginia Guarani, Claude Jardel, Dominique Chrétien, Anne Lombès, Paule Bénit, Clémence Labasse, Emmanuelle Lacène, Agnès Bourillon, Apolline Imbard, Jean-François Benoist, Imen Dorboz, Mylène Gilleron, Eric S Goetzman, Pauline Gaignard, Abdelhamid Slama, Monique Elmaleh-Bergès, Norma B Romero, Pierre Rustin, Hélène Ogier de Baulny, Joao A Paulo, J Wade Harper, Manuel Schiff
Published 2016-09-01