Detalhe da pesquisa
1.
EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.
Clin Genet
; 100(4): 396-404, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34176129
2.
Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: A retrospective, nationwide, multicenter study in France.
Prenat Diagn
; 39(6): 464-470, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896039
3.
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
BMC Med Genet
; 19(1): 57, 2018 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29625556
4.
A Case Report of SYNE1 Deficiency-Mimicking Mitochondrial Disease and the Value of Pangenomic Investigations.
Genes (Basel)
; 14(12)2023 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38136976
5.
CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis.
EMBO Mol Med
; 8(1): 58-72, 2016 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26666268
6.
Letter to the Editor on a paper by Hsiao C-T, Tsai P-C, Liao Y-C, Lee Y-C, Soong B-W. C9ORF72 repeat expansion is not a significant cause of late-onset cerebellar ataxia syndrome. J Neurol Sci 2014;347:322-324.
J Neurol Sci
; 351(1-2): 196-197, 2015 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25732802