Detalhe da pesquisa
1.
Multisystem mitochondrial diseases due to mutations in mtDNA-encoded subunits of complex I.
BMC Pediatr
; 20(1): 41, 2020 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31996177
2.
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.
Cardiol Young
; 27(5): 936-944, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-27839525
3.
Hereditary Multiple Exostoses: Clinical, Molecular and Radiologic Survey in 9 Families.
Prague Med Rep
; 118(2-3): 87-94, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28922105
4.
Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.
Ophthalmic Genet
; 37(4): 419-423, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-26894521
5.
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.
Eur J Hum Genet
; 22(3): 431-4, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23838601