Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome
Lindstrand, Anna, Frangakis, Stephan, Carvalho, Claudia M.B., Richardson, Ellen B., McFadden, Kelsey A., Willer, Jason R., Pehlivan, Davut, Liu, Pengfei, Pediaditakis, Igor L., Sabo, Aniko, Lewis, Richard Alan, Banin, Eyal, Lupski, James R., Davis, Erica E., Katsanis, Nicholas
Published in American journal of human genetics (04.08.2016)
Published in American journal of human genetics (04.08.2016)
Get full text
Journal Article
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants
Fellmann, Florence, Saunders, Carol, O'Donohue, Marie-Françoise, Reid, David W, McFadden, Kelsey A, Montel-Lehry, Nathalie, Yu, Cong, Fang, Mingyan, Zhang, Jianguo, Royer-Bertrand, Beryl, Farinelli, Pietro, Karboul, Narjesse, Willer, Jason R, Fievet, Lorraine, Bhuiyan, Zahurul Alam, Kleinhenz, Alissa Lw, Jadeau, Julie, Fulbright, Joy, Rivolta, Carlo, Renella, Raffaele, Katsanis, Nicholas, Beckmann, Jacques S, Nicchitta, Christopher V, Da Costa, Lydie, Davis, Erica E, Gleizes, Pierre-Emmanuel
Published in JCI insight (01.08.2024)
Published in JCI insight (01.08.2024)
Get full text
Journal Article