UniSa - IRIS Institutional Research Information System

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

VALENTE, Enza Maria;Logan CV;Mougou Zerelli S;Lee JH;Silhavy JL;Brancati F;Iannicelli M;Travaglini L;Romani S;Illi B;Adams M;Szymanska K;Mazzotta A;Lee JE;Tolentino JC;Swistun D;Salpietro CD;Fede C;Gabriel S;Russ C;Cibulskis K;Sougnez C;Hildebrandt F;Otto EA;Held S;Diplas BH;Davis EE;Mikula M;Strom CM;Ben Zeev B;Lev D;Sagie TL;Michelson M;Yaron Y;Krause A;Boltshauser E;Elkhartoufi N;Roume J;Shalev S;Munnich A;Saunier S;Inglehearn C;Saad A;Alkindy A;Thomas S;Vekemans M;Dallapiccola B;Katsanis N;Johnson CA;Attié Bitach T;Gleeson J.G.

2010