학술논문
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy and spastic tetraparesis
Document Type
Journal
Author
De Boer, Elke; Ockeloen, Charlotte W.; Matalonga, Leslie; Horvath, Rita; Rodenburg, Richard J.; Coenen, Marieke J. H.; Janssen, Mirian; Henssen, Dylan; Gilissen, Christian; Steyaert, Wouter; Paramonov, Ida; Trimouille, Aurelien; Kleefstra, Tjitske; Verloes, Alain; Vissers, Lisenka E. L. M.; Solve-Rd Snv-Indel Working Group; Solve-Rd-Ditf-Ithaca
Source
Subject
Language
English
ISSN
14765438