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- 2021
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Mark
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
(
- Contribution to journal › Article
- 2020
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Mark
A spontaneous mitonuclear epistasis converging on Rieske Fe-S protein exacerbates complex III deficiency in mice
(
- Contribution to journal › Article
- 2017
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Mark
Respiratory chain complex III deficiency due to mutated BCS1L : A novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model
(
- Contribution to journal › Article
- 2016
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Mark
Genetic Predisposition to Poor Opioid Response in Preterm Infants : Impact of KCNJ6 and COMT Polymorphisms on Pain Relief after Endotracheal Intubation
(
- Contribution to journal › Article
- 2010
-
Mark
Primate-specific evolution of noncoding element insertion into PLA2G4C and human preterm birth
(
- Contribution to journal › Article
- 2009
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Mark
Mother's Genome or Maternally-Inherited Genes Acting in the Fetus Influence Gestational Age in Familial Preterm Birth
(
- Contribution to journal › Article
- 2008
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Mark
Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
(
- Contribution to journal › Article
- 2002
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Mark
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
(
- Contribution to journal › Article