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Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions Buffin-Meyer, Benedicte; Richard, Juliette; Guigonis, Vincent; Weber, Stefanie; Koenig, Jens; Heidet, Laurence; Moussaoui, Nabila; Vu, Jeanne-Pierrette; Faguer, Stanislas; Casemayou, Audrey; Prakash, Richa; Baudouin, Veronique; Hogan, Julien; Alexandrou, Demi; Bockenhauer, Detlef; Bacchetta, Justine; Ranchin, Bruno; Pruhova, Stepanka; Zieg, Jakub; Lahoche, Annie; Okorn, Christine; Antal-Konya, Violetta; Morin, Denis; Becherucci, Francesca; Habbig, Sandra; Liebau, Max C.; Mauras, Mathilde; Nijenhuis, Tom; Llanas, Brigitte; Mekahli, Djalila; Thumfart, Julia; Toenshoff, Burkhard; Massella, Laura; Eckart, Philippe; Cloarec, Sylvie; Cruz, Alejandro; Patzer, Ludwig; Roussey, Gwenaelle; Vrillon, Isabelle; Dunand, Olivier; Bessenay, Lucie; Taroni, Francesca; Zaniew, Marcin; Louillet, Ferielle; Bergmann, Carsten; Schaefer, Franz; Eerde, Albertien M. van; Schanstra, Joost P.; Decramer, Stephane Share Save
Neuropsychological and neuroanatomical phenotype in 17 patients with cystinosis Curie, Aurore; Touil, Nathalie; Gaillard, Segolene; Galanaud, Damien; Leboucq, Nicolas; Deschenes, Georges; Morin, Denis; Abad, Fanny; Luaute, Jacques; Bodenan, Eurielle; Roche, Laurent; Acquaviva, Cecile; Vianey-Saban, Christine; Cochat, Pierre; Cotton, Francois; Bertholet-Thomas, Aurelia Share Save