Detalhe da pesquisa
1.
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.
Am J Hum Genet
; 102(3): 460-467, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429571
2.
Pluripotent stem cell-derived bile canaliculi-forming hepatocytes to study genetic liver diseases involving hepatocyte polarity.
J Hepatol
; 71(2): 344-356, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30965071
3.
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
Am J Hum Genet
; 99(3): 674-682, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27523597
4.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Am J Hum Genet
; 98(6): 1130-1145, 2016 Jun 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259049
5.
Letter to the Editor: Liver Cell Models for Premature Termination Codon Readthrough Analyses.
Hepatology
; 74(3): 1711-1712, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33314224
6.
Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations.
Mol Genet Metab
; 113(4): 301-6, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25458521
7.
Induction of Bile Canaliculi-Forming Hepatocytes from Human Pluripotent Stem Cells.
Methods Mol Biol
; 2544: 71-82, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36125710