检索结果 - Ganka V. Douglas

Biallelic Mutations in TBCD , Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy 由 Elisabetta Flex, Marcello Niceta, Serena Cecchetti, Isabelle Thiffault, Margaret Au, Alessandro Capuano, Emanuela Piermarini, Anna Ivanova, Joshua W. Francis, Giovanni Chillemi, Balasubramanian Chandramouli, Giovanna Carpentieri, Charlotte A. Haaxma, Andrea Ciolfi, Simone Pizzi, Ganka V. Douglas, Kara L. Levine, Antonella Sferra, Maria Lisa Dentici, Rolph Pfundt, Jean‐Baptiste Le Pichon, Emily Farrow, Frank Baas, Fiorella Piemonte, Bruno Dallapiccola, John M. Graham, Carol Saunders, Enrico Bertini, Richard Kahn, David A. Koolen, Marco Tartaglia