Detalhe da pesquisa
1.
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.
EMBO J
; 39(23): e105364, 2020 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33128823
2.
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy.
Am J Hum Genet
; 102(5): 858-873, 2018 05 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29727687
3.
Side-by-side comparison of next-generation sequencing, cytology, and histology in diagnosing locally advanced pancreatic adenocarcinoma.
Gastrointest Endosc
; 93(3): 597-604.e5, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32640200
4.
Compact and ultrastable photonic microwave oscillator.
Opt Lett
; 45(5): 1140-1143, 2020 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32108790
5.
Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy.
Hum Mol Genet
; 25(14): 2985-2996, 2016 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-27193168
6.
Distal femur periprosthetic knee fractures in elderly patients: clinical and radiographic outcome after internal fixation.
Acta Biomed
; 92(S3): e2021028, 2021 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34313656
7.
Post-Biopsy Cell-Free DNA From Blood: An Open Window on Primary Prostate Cancer Genetics and Biology.
Front Oncol
; 11: 654140, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34109115
8.
Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.
Sci Rep
; 6: 20466, 2016 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842864
9.
Exosomal Protein Deficiencies: How Abnormal RNA Metabolism Results in Childhood-Onset Neurological Diseases.
J Neuromuscul Dis
; 2(Suppl 2): S31-S37, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-27127732
10.
Investigating the role of the physiological isoform switch of cytochrome c oxidase subunits in reversible mitochondrial disease.
Int J Biochem Cell Biol
; 63: 32-40, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25666558
11.
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Nat Commun
; 5: 4287, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24989451