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The Journal of Biological Chemistry
|
March 4, 2003
The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification
James Murray, Bing Zhang, Steven W Taylor, et al.
Molecular Genetics and Metabolism
|
February 9, 2010
Homogentisic acid interference in routine urine creatinine determination
Perry R Loken, Mark J Magera, Wendy Introne, et al.
International Journal of Neonatal Screening
|
October 19, 2020
The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism
Dimitar K Gavrilov, Amy L Piazza, Gisele Pino, et al.
JIMD Reports
|
October 15, 2017
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features
Erin Conboy, Filippo Vairo, Matthew Schultz, et al.
Scientific Reports
|
May 30, 2026
Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and duration
Rachel Wurth, Coleman Turgeon, Jean Lacey, et al.
Orphanet Journal of Rare Diseases
|
November 15, 2024
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases
Yutaka Furuta, Rory J Tinker, Rizwan Hamid, et al.
Clinical Chemistry
|
January 8, 2008
Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)
Devin Oglesbee, Karen A Sanders, Jean M Lacey, et al.
Molecular Genetics & Genomic Medicine
|
November 28, 2017
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria
Ramanath Majumdar, Andrew Yori, Peggy W Rush, et al.
The Journal of Molecular Diagnostics : JMD
|
August 23, 2017
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening
Noemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, et al.
Molecular Genetics and Metabolism
|
May 4, 2010
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing
Emily H Smith, Cheryl Thomas, David McHugh, et al.
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of 10
Search research articles
Search
Showing results (31-40 of 99) with videos related to
Sort By:
Page
of 10
The Journal of Biological Chemistry
|
March 4, 2003
The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification
James Murray, Bing Zhang, Steven W Taylor, et al.
Molecular Genetics and Metabolism
|
February 9, 2010
Homogentisic acid interference in routine urine creatinine determination
Perry R Loken, Mark J Magera, Wendy Introne, et al.
International Journal of Neonatal Screening
|
October 19, 2020
The Combined Impact of CLIR Post-Analytical Tools and Second Tier Testing on the Performance of Newborn Screening for Disorders of Propionate, Methionine, and Cobalamin Metabolism
Dimitar K Gavrilov, Amy L Piazza, Gisele Pino, et al.
JIMD Reports
|
October 15, 2017
Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency: Unique Presenting Laboratory Values and a Review of Biochemical and Clinical Features
Erin Conboy, Filippo Vairo, Matthew Schultz, et al.
Scientific Reports
|
May 30, 2026
Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and duration
Rachel Wurth, Coleman Turgeon, Jean Lacey, et al.
Orphanet Journal of Rare Diseases
|
November 15, 2024
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases
Yutaka Furuta, Rory J Tinker, Rizwan Hamid, et al.
Clinical Chemistry
|
January 8, 2008
Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD)
Devin Oglesbee, Karen A Sanders, Jean M Lacey, et al.
Molecular Genetics & Genomic Medicine
|
November 28, 2017
Allelic spectrum of formiminotransferase-cyclodeaminase gene variants in individuals with formiminoglutamic aciduria
Ramanath Majumdar, Andrew Yori, Peggy W Rush, et al.
The Journal of Molecular Diagnostics : JMD
|
August 23, 2017
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening
Noemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, et al.
Molecular Genetics and Metabolism
|
May 4, 2010
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing
Emily H Smith, Cheryl Thomas, David McHugh, et al.
Page
of 10