Browsing by Author Flex, E.
Showing results 1 to 2 of 2
| Issue Date | Title | Author(s) |
|---|---|---|
| 2016 | Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy | Flex, E.; Chillemi, Giovanni ; Chandramouli, B.; Carpentieri, G.; Haaxma Ca; Ciolfi, A.; Pizzi, S.; Douglas Gv; Levine, K.; Sferra, A.; Dentici Ml; Niceta, M.; Pfundt Rr; Le Pichon Jb; Farrow, E.; Baas, F.; Piemonte, F.; Dallapiccola, B.; Graham; Saunders Cj; Bertini, E.; Kahn Ra; Cecchetti, S.; Koolen Da; Tartaglia, M.; Thiffault, I.; Au Mg; Capuano, A.; Piermarini, E.; Ivanova Aa; Francis Jw |
| 2017 | Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD | Pode-shakked, B.; Niceta, M.; Eyal, E.; Kol, N.; Ben-zeev, B.; Bar-yosef, O.; Marek-yagel, D.; Bertini, E.; Duker Al; Anikster, Y.; Tartaglia, M.; Barash, H.; Raas-rothschild, A.; Ziv, L.; Gripp Kw; Flex, E.; Barel, O.; Carvalho Ks; Scavina, M.; Chillemi, Giovanni |