Detalhe da pesquisa
1.
Prenatal phenotype of a homozygous nonsense MPDZ variant in a fetus with severe congenital hydrocephalus.
Prenat Diagn
; 44(5): 657-660, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38498110
2.
Outcome of publicly funded nationwide first-tier noninvasive prenatal screening.
Genet Med
; 23(6): 1137-1142, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33564150
3.
New insights into the phenotype of FARS2 deficiency.
Mol Genet Metab
; 122(4): 172-181, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29126765
4.
Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression.
PLoS One
; 17(9): e0274310, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084111
5.
Performance and Diagnostic Value of Genome-Wide Noninvasive Prenatal Testing in Multiple Gestations.
Obstet Gynecol
; 137(6): 1102-1108, 2021 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33957658
6.
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in MTFMT.
Neurol Genet
; 4(6): e298, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30569017
7.
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency.
Orphanet J Rare Dis
; 13(1): 80, 2018 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-29783990