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Monique Williams

Showing results (41-50 of 79) with videos related to

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JIMD Reports|February 20, 2020
Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literatureFemke Molema, Monique Williams, Janneke Langendonk, et al.
Molecular Genetics and Metabolism|March 5, 2019
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatmentFemke Molema, Florian Gleich, Peter Burgard, et al.
Metabolites|November 30, 2019
Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS PlatformRamon Bonte, Michiel Bongaerts, Serwet Demirdas, et al.
Molecular Genetics & Genomic Medicine|April 1, 2017
A novel <i>de novo</i> frameshift deletion in <i>EHMT1</i> in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylationPatrick R Blackburn, Monique Williams, Margot A Cousin, et al.
Journal of Inherited Metabolic Disease|February 9, 2019
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registryFemke Molema, Florian Gleich, Peter Burgard, et al.
Molecular Cancer Research : MCR|April 27, 2017
Combined AURKA and H3K9 Methyltransferase Targeting Inhibits Cell Growth By Inducing Mitotic CatastropheAngela Mathison, Ann Salmonson, Mckenna Missfeldt, et al.
Journal of Inherited Metabolic Disease|April 12, 2017
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic controlFabian Peeks, Thomas A H Steunenberg, Foekje de Boer, et al.
American Journal of Medical Genetics. Part A|May 26, 2017
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 geneJan G M Huijmans, Rachel Schot, Johannis B C de Klerk, et al.
Journal of Inherited Metabolic Disease|September 16, 2011
A series of pregnancies in women with inherited metabolic diseaseJanneke G Langendonk, Jonathan C P Roos, Lindsay Angus, et al.
International Journal of Molecular Sciences|June 24, 2022
<i>Col4a3</i> Mice on Balb/C Background Have Less Severe Cardiorespiratory Phenotype and SGLT2 Over-Expression Compared to 129x1/SvJ and C57Bl/6 BackgroundsCamila I Irion, Monique Williams, Jose Condor Capcha, et al.
Pageof 8

Showing results (41-50 of 79) with videos related to

Sort By:
Pageof 8
JIMD Reports|February 20, 2020
Neurotoxicity including posterior reversible encephalopathy syndrome after initiation of calcineurin inhibitors in transplanted methylmalonic acidemia patients: Two case reports and review of the literatureFemke Molema, Monique Williams, Janneke Langendonk, et al.
Molecular Genetics and Metabolism|March 5, 2019
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatmentFemke Molema, Florian Gleich, Peter Burgard, et al.
Metabolites|November 30, 2019
Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS PlatformRamon Bonte, Michiel Bongaerts, Serwet Demirdas, et al.
Molecular Genetics & Genomic Medicine|April 1, 2017
A novel <i>de novo</i> frameshift deletion in <i>EHMT1</i> in a patient with Kleefstra Syndrome results in decreased H3K9 dimethylationPatrick R Blackburn, Monique Williams, Margot A Cousin, et al.
Journal of Inherited Metabolic Disease|February 9, 2019
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registryFemke Molema, Florian Gleich, Peter Burgard, et al.
Molecular Cancer Research : MCR|April 27, 2017
Combined AURKA and H3K9 Methyltransferase Targeting Inhibits Cell Growth By Inducing Mitotic CatastropheAngela Mathison, Ann Salmonson, Mckenna Missfeldt, et al.
Journal of Inherited Metabolic Disease|April 12, 2017
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic controlFabian Peeks, Thomas A H Steunenberg, Foekje de Boer, et al.
American Journal of Medical Genetics. Part A|May 26, 2017
Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 geneJan G M Huijmans, Rachel Schot, Johannis B C de Klerk, et al.
Journal of Inherited Metabolic Disease|September 16, 2011
A series of pregnancies in women with inherited metabolic diseaseJanneke G Langendonk, Jonathan C P Roos, Lindsay Angus, et al.
International Journal of Molecular Sciences|June 24, 2022
<i>Col4a3</i> Mice on Balb/C Background Have Less Severe Cardiorespiratory Phenotype and SGLT2 Over-Expression Compared to 129x1/SvJ and C57Bl/6 BackgroundsCamila I Irion, Monique Williams, Jose Condor Capcha, et al.
Pageof 8