Detalhe da pesquisa
1.
A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Hum Mutat
; 40(7): 893-898, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30981218
2.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Am J Hum Genet
; 94(2): 209-22, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24462369
3.
Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.
Seizure
; 59: 132-140, 2018 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-29852413
4.
Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome.
Mitochondrion
; 11(1): 104-7, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20708716
5.
Evidence-based medicine.
Dev Med Child Neurol
; 44(7): 435, 2002 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-12162380