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JIMD reports

Showing results (511-520 of 1,250) with videos related to

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JIMD Reports|June 27, 2016
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial DisorderMichael Nafisinia, Yiran Guo, Xiao Dang, et al.
JIMD Reports|June 15, 2016
A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in PhenylketonuriaH Blasco, C Veyrat-Durebex, M Bertrand, et al.
JIMD Reports|February 23, 2016
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/SerumP Ruiz Sala, G Ruijter, C Acquaviva, et al.
JIMD Reports|February 27, 2016
A New Approach for Fast Metabolic Diagnostics in CMAMMAMonique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, et al.
JIMD Reports|December 2, 2015
Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse BrainHelen Beard, Sofia Hassiotis, Amanda J Luck, et al.
JIMD Reports|August 5, 2015
Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)Piero Farruggia, Andrea Di Cataldo, Rita M Pinto, et al.
JIMD Reports|August 5, 2015
Transaldolase Deficiency: A New Case Expands the Phenotypic SpectrumEhud Banne, Vardiella Meiner, Avraham Shaag, et al.
JIMD Reports|August 5, 2015
Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?Jillian P Casey, Ellen Crushell, Kyle Thompson, et al.
JIMD Reports|October 14, 2014
Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type IRichard D Beegle, Laurie M Brown, David A Weinstein
JIMD Reports|August 27, 2014
The complexity of newborn screening follow-up in phenylketonuriaLeah E Hecht, Ann E Wessel, Harvey L Levy, et al.
Pageof 125

Showing results (511-520 of 1,250) with videos related to

Sort By:
Pageof 125
JIMD Reports|June 27, 2016
Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial DisorderMichael Nafisinia, Yiran Guo, Xiao Dang, et al.
JIMD Reports|June 15, 2016
A Multiplatform Metabolomics Approach to Characterize Plasma Levels of Phenylalanine and Tyrosine in PhenylketonuriaH Blasco, C Veyrat-Durebex, M Bertrand, et al.
JIMD Reports|February 23, 2016
Pilot Experience with an External Quality Assurance Scheme for Acylcarnitines in Plasma/SerumP Ruiz Sala, G Ruijter, C Acquaviva, et al.
JIMD Reports|February 27, 2016
A New Approach for Fast Metabolic Diagnostics in CMAMMAMonique G M de Sain-van der Velden, Maria van der Ham, Judith J Jans, et al.
JIMD Reports|December 2, 2015
Continual Low-Dose Infusion of Sulfamidase Is Superior to Intermittent High-Dose Delivery in Ameliorating Neuropathology in the MPS IIIA Mouse BrainHelen Beard, Sofia Hassiotis, Amanda J Luck, et al.
JIMD Reports|August 5, 2015
Pearson Syndrome: A Retrospective Cohort Study from the Marrow Failure Study Group of A.I.E.O.P. (Associazione Italiana Emato-Oncologia Pediatrica)Piero Farruggia, Andrea Di Cataldo, Rita M Pinto, et al.
JIMD Reports|August 5, 2015
Transaldolase Deficiency: A New Case Expands the Phenotypic SpectrumEhud Banne, Vardiella Meiner, Avraham Shaag, et al.
JIMD Reports|August 5, 2015
Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?Jillian P Casey, Ellen Crushell, Kyle Thompson, et al.
JIMD Reports|October 14, 2014
Regression of hepatocellular adenomas with strict dietary therapy in patients with glycogen storage disease type IRichard D Beegle, Laurie M Brown, David A Weinstein
JIMD Reports|August 27, 2014
The complexity of newborn screening follow-up in phenylketonuriaLeah E Hecht, Ann E Wessel, Harvey L Levy, et al.
Pageof 125