Detalhe da pesquisa
1.
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.
Genet Med
; 22(12): 2071-2080, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32741967
2.
A very rare form of autosomal dominant progressive myoclonus epilepsy caused by a novel variant in the PRICKLE1 gene.
Seizure
; 69: 133-139, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-31035234
3.
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Eur J Hum Genet
; 26(4): 592-598, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29449720