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JIMD Reports
|
July 13, 2022
Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations
Isaac Bernhardt, Emma Glamuzina, Leah K Dowsett, et al.
Plos Genetics
|
June 21, 2013
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency
Seok-Hyung Kim, Sarah A Scott, Michael J Bennett, et al.
The Journal of Biological Chemistry
|
August 5, 2011
Green tea polyphenols control dysregulated glutamate dehydrogenase in transgenic mice by hijacking the ADP activation site
Changhong Li, Ming Li, Pan Chen, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2004
Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: a case report
Dinesh Rakheja, Michael L Cimo, Ronald M Ramus, et al.
Molecular Genetics and Metabolism
|
May 27, 2006
Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase
Michael J Bennett, Laurie K Russell, Chonan Tokunaga, et al.
Molecular Genetics and Metabolism
|
March 7, 2006
Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties
Srinivas B Narayan, Dinesh Rakheja, Johanne V Pastor, et al.
Scientific Reports
|
August 29, 2018
Ethanol and C2 ceramide activate fatty acid oxidation in human hepatoma cells
Jason M Correnti, Lauren Gottshall, Annie Lin, et al.
Journal of Inherited Metabolic Disease
|
November 22, 2017
Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism
Kimberly A Chapman, Julian Ostrovsky, Meera Rao, et al.
Journal of Aerosol Medicine and Pulmonary Drug Delivery
|
July 10, 2020
Quantitative Assessment of Regional Mucociliary Clearance in Smokers with Mild-to-Moderate Chronic Obstructive Pulmonary Disease and Chronic Bronchitis from Planar Radionuclide Imaging
John S Fleming, Joy Conway, Michael J Bennett, et al.
Molecular Genetics and Metabolism
|
June 14, 2008
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
Paul J Isackson, Michael J Bennett, Uta Lichter-Konecki, et al.
Page
of 16
Search research articles
Search
Showing results (111-120 of 156) with videos related to
Sort By:
Page
of 16
JIMD Reports
|
July 13, 2022
Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations
Isaac Bernhardt, Emma Glamuzina, Leah K Dowsett, et al.
Plos Genetics
|
June 21, 2013
Multi-organ abnormalities and mTORC1 activation in zebrafish model of multiple acyl-CoA dehydrogenase deficiency
Seok-Hyung Kim, Sarah A Scott, Michael J Bennett, et al.
The Journal of Biological Chemistry
|
August 5, 2011
Green tea polyphenols control dysregulated glutamate dehydrogenase in transgenic mice by hijacking the ADP activation site
Changhong Li, Ming Li, Pan Chen, et al.
American Journal of Medical Genetics. Part A
|
August 19, 2004
Hydrolethalus syndrome, in contrast to Smith-Lemli-Opitz syndrome, is not due to a defect in post-squalene cholesterol biosynthesis: a case report
Dinesh Rakheja, Michael L Cimo, Ronald M Ramus, et al.
Molecular Genetics and Metabolism
|
May 27, 2006
Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase
Michael J Bennett, Laurie K Russell, Chonan Tokunaga, et al.
Molecular Genetics and Metabolism
|
March 7, 2006
Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties
Srinivas B Narayan, Dinesh Rakheja, Johanne V Pastor, et al.
Scientific Reports
|
August 29, 2018
Ethanol and C2 ceramide activate fatty acid oxidation in human hepatoma cells
Jason M Correnti, Lauren Gottshall, Annie Lin, et al.
Journal of Inherited Metabolic Disease
|
November 22, 2017
Propionyl-CoA carboxylase pcca-1 and pccb-1 gene deletions in Caenorhabditis elegans globally impair mitochondrial energy metabolism
Kimberly A Chapman, Julian Ostrovsky, Meera Rao, et al.
Journal of Aerosol Medicine and Pulmonary Drug Delivery
|
July 10, 2020
Quantitative Assessment of Regional Mucociliary Clearance in Smokers with Mild-to-Moderate Chronic Obstructive Pulmonary Disease and Chronic Bronchitis from Planar Radionuclide Imaging
John S Fleming, Joy Conway, Michael J Bennett, et al.
Molecular Genetics and Metabolism
|
June 14, 2008
CPT2 gene mutations resulting in lethal neonatal or severe infantile carnitine palmitoyltransferase II deficiency
Paul J Isackson, Michael J Bennett, Uta Lichter-Konecki, et al.
Page
of 16