Detalhe da pesquisa
1.
New insights and potential biomarkers for intraventricular hemorrhage in extremely premature infant, case-control study.
Pediatr Res
; 2024 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-38467704
2.
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
J Med Genet
; 59(4): 377-384, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33737400
3.
Neuronal ceroïd-lipofuscinosis: Clinical, electroencephalographic, imaging, and genetic study of a maghrebian series.
Clin Genet
; 102(2): 157-160, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35796208
4.
Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.
Int J Mol Sci
; 24(1)2022 Dec 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-36613999
5.
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family.
Int J Mol Sci
; 22(23)2021 Nov 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34884438
6.
An Unusual Peak in a Common Clinical Presentation.
Clin Chem
; 67(5): 799-801, 2021 04 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-33928370
7.
An Atypical Case of Congenital Erythropoietic Porphyria.
Genes (Basel)
; 12(11)2021 11 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-34828434
8.
NGLY1 Deficiency: A Rare Newly Described Condition with a Typical Presentation.
Life (Basel)
; 11(3)2021 Feb 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-33673403
9.
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Diagnostics (Basel)
; 11(2)2021 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33673364
10.
Large-scale screening of lipase acid deficiency in at risk population.
Clin Chim Acta
; 519: 64-69, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-33857477
11.
Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.
J Bone Miner Res
; 35(5): 913-919, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31886927
12.
Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome.
Mol Genet Genomic Med
; 7(8): e815, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31251474