TY  - GEN
AU  - de Boer, Elke
AU  - Ockeloen, Charlotte W
AU  - Matalonga, Leslie
AU  - Horvath, Rita
AU  - Solve-RD SNV-indel working group
AU  - Rodenburg, Richard J
AU  - Coenen, Marieke J H
AU  - Janssen, Mirian
AU  - Henssen, Dylan
AU  - Gilissen, Christian
AU  - Steyaert, Wouter
AU  - Paramonov, Ida
AU  - Solve-RD-DITF-ITHACA
AU  - Trimouille, Aurélien
AU  - Kleefstra, Tjitske
AU  - Verloes, Alain
AU  - Vissers, Lisenka E L M
AU  - Posada De la Paz, Manuel
PY  - 2021
DO  - 10.1038/s41431-021-00900-2
UR  - http://hdl.handle.net/20.500.12105/15002
AB  - The genetic etiology of intellectual disability remains elusive in almost half of all affected individuals. Within the Solve-RD consortium, systematic re-analysis of whole exome sequencing (WES) data from unresolved cases with (syndromic) intellectual...
LA  - eng
PB  - Springer
KW  - Epilepsy
KW  - Humans
KW  - Intellectual Disability
KW  - Male
KW  - Mutation
KW  - Quadriplegia
KW  - RNA, Transfer, Leu
KW  - Whole Exome Sequencing
KW  - Young Adult
TI  - A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
TY  - research article
ER  -