论文信息 - Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1) - 字舞流文

Exome reanalysis and proteomic profiling identified TRIP4 as a novel cause of cerebellar hypoplasia and spinal muscular atrophy (PCH1)

I. Nelson | C. Gilissen | P. Chinnery | H. Lochmüller | R. Horvath | A. Ferlini | A. Sickmann | Rachel Thompson | H. Houlden | D. Danis | G. Piluso | M. Hanna | Y. Duffourd | Shuang Li | J. Cossins | W. Steyaert | T. Evangelista | L. Matalonga | R. Pitceathly | A. Hentschel | B. Udd | J. Vandrovcova | H. Kölbel | G. Bonne | I. Paramonov | J. Baets | A. Torella | V. Nigro | R. Selvatici | I. Cuesta | M. Savarese | A. Sarkozy | A. Töpf | A. Pyle | Anne-Sophie Denommé-Pichon | K. Polavarapu | P. Hackman | U. Schara-Schmidt | A. Roos | Liedewei Van de Vondel | D. Beijer | S. Peters | P. R. Cruz | H. Griffin | M. Johari | I. Zaharieva | D. Natera-de Benito | A. Nascimento | S. Laurie | K. Schon | F. Musacchia | A. Vitobello | W. Macken | P. Robinson | K. Šablauskas | V. Pini | Joeri K. van der Velde | Enzo Cohen | Enzo Isabel Daniel Anne-Sophie Yannis Christian Mridul Cohen Cuesta Danis Denommé-Pichon Duffourd G | Sivakumar Prasanth | Jarred Lau | Jonathan Danique Gisèle Judith Teresinha Alessandra Peter M Baets Beijer Bonne Cossins Evangelista F