Detalhe da pesquisa
1.
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Hepatology
; 79(5): 1075-1087, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37976411
2.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Mol Genet Metab
; 141(3): 108118, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38244286
3.
Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency.
J Inherit Metab Dis
; 2024 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38279772
4.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100314, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305855
5.
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes.
Hum Mutat
; 43(8): 1056-1070, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35645004
6.
Lipomatous Solitary Fibrous Tumors Harbor Rare NAB2-STAT6 Fusion Variants and Show Up-Regulation of the Gene PPARG, Encoding for a Regulator of Adipocyte Differentiation.
Am J Pathol
; 191(7): 1314-1324, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33887215
7.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Genet Med
; 25(6): 100828, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272928
8.
Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome.
Front Pediatr
; 12: 1278047, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38445077
9.
Machine Learning-Supported Diagnosis of Small Blue Round Cell Sarcomas Using Targeted RNA Sequencing.
J Mol Diagn
; 26(5): 387-398, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38395409
10.
Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis.
Handb Clin Neurol
; 194: 141-165, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36813310
11.
How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data.
Front Mol Biosci
; 8: 647277, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34141720
12.
The Dimensions of Primary Mitochondrial Disorders.
Front Cell Dev Biol
; 8: 600079, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33324649
13.
Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients.
J Neurol
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38775934