Risultati della ricerca - Blake Robinson

Pathogenic Variants in RNU2‐2 , a Non‐coding Spliceosomal RNA , Cause a Distinctive Developmental and Epileptic Encephalopathy Autoría: Annie T.G. Chiu, Mark F. Bennett, Harshini Thiyagarajah, Amy L. Schneider, Sian M.W. Macdonald, Tom Witkowski, Edith P Almanza Fuerte, Talia J. Allan, Nico Lieffering, Blake Robinson, Christy W. LaFlamme, Soham Sengupta, Clara W.T. Chung, Michael Cardamone, Cassandra Gray, Piero Perucca, Samuel F. Berkovic, Heather C. Mefford, Michael S. Hildebrand, Ingrid E. Scheffer