CINECA IRIS Institutional Research Information System

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

Travaglini L;Brancati F;Silhavy;Iannicelli M;Nickerson E;ElKhartoufi N;Scott E;Spencer E;Gabriel S;Thomas S;Ben-Zeev B;Bertini E;Boltshauser E;Chaouch M;Cilio MR;De Jong MM;Kayserili H;Ogur G;Poretti A;Signorini S;Uziel G;Zaki MS;International JSR Study Group;Battini R;Johnson C;Attiè-Bitach T;Gleeson JG;Valente EM

2013-01-01