Detalhe da pesquisa
1.
Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy.
Hum Mol Genet
; 26(24): 4937-4950, 2017 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29040572
2.
Correction: Variants in MED12L, encoding a subunit of the Mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(11): 2663, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31267042
3.
Variants in MED12L, encoding a subunit of the mediator kinase module, are responsible for intellectual disability associated with transcriptional defect.
Genet Med
; 21(12): 2713-2722, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155615
4.
The usefulness of whole-exome sequencing in routine clinical practice.
Genet Med
; 16(12): 922-31, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24901346
5.
Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability.
Rare Dis
; 1: e26314, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-25003006