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The Journal of Molecular Diagnostics : JMD
|
May 12, 2015
Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing
Linnea M Baudhuin, Susan A Lagerstedt, Eric W Klee, et al.
Mitochondrion
|
July 17, 2021
High-resolution mass spectrometric analysis of cardiolipin profiles in Barth syndrome
Seul Kee Byeon, Madan Gopal Ramarajan, Anil K Madugundu, et al.
Clinical Chemistry
|
July 22, 2016
Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry
Silvia Tortorelli, Coleman T Turgeon, Dimitar K Gavrilov, et al.
Journal of Inherited Metabolic Disease
|
September 8, 2010
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency
Emily Helen Smith, Dimitar K Gavrilov, Devin Oglesbee, et al.
The Journal of Biological Chemistry
|
January 15, 2004
Investigating mitochondrial redox potential with redox-sensitive green fluorescent protein indicators
George T Hanson, Robert Aggeler, Devin Oglesbee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 30, 2017
CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance
Devin Oglesbee, Tina M Cowan, Marzia Pasquali, et al.
Journal of Neurology
|
March 9, 2011
Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria
M Ali Pervaiz, Marc C Patterson, Eduard A Struys, et al.
Clinical Chemistry
|
February 19, 2008
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots
Coleman Turgeon, Mark J Magera, Pierre Allard, et al.
Blood. Red Cells & Iron
|
April 20, 2026
Hemoglobin alpha-like subunit mu is expressed during ontogeny and is elevated in alpha thalassemia
Kishore Garapati, Sandip Chavan, Anikha Bellad, et al.
The Journal of Molecular Diagnostics : JMD
|
August 27, 2025
Clinical Assessment of Next-Generation Sequencing Probe Reproducibility in Short-Read Sequencing (ClinRay) Using Digital Twins
Rohan Gnanaolivu, Neiladri Saha, Noemi Vidal-Folch, et al.
Page
of 10
Search research articles
Search
Showing results (21-30 of 99) with videos related to
Sort By:
Page
of 10
The Journal of Molecular Diagnostics : JMD
|
May 12, 2015
Confirming Variants in Next-Generation Sequencing Panel Testing by Sanger Sequencing
Linnea M Baudhuin, Susan A Lagerstedt, Eric W Klee, et al.
Mitochondrion
|
July 17, 2021
High-resolution mass spectrometric analysis of cardiolipin profiles in Barth syndrome
Seul Kee Byeon, Madan Gopal Ramarajan, Anil K Madugundu, et al.
Clinical Chemistry
|
July 22, 2016
Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry
Silvia Tortorelli, Coleman T Turgeon, Dimitar K Gavrilov, et al.
Journal of Inherited Metabolic Disease
|
September 8, 2010
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency
Emily Helen Smith, Dimitar K Gavrilov, Devin Oglesbee, et al.
The Journal of Biological Chemistry
|
January 15, 2004
Investigating mitochondrial redox potential with redox-sensitive green fluorescent protein indicators
George T Hanson, Robert Aggeler, Devin Oglesbee, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
June 30, 2017
CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance
Devin Oglesbee, Tina M Cowan, Marzia Pasquali, et al.
Journal of Neurology
|
March 9, 2011
Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria
M Ali Pervaiz, Marc C Patterson, Eduard A Struys, et al.
Clinical Chemistry
|
February 19, 2008
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots
Coleman Turgeon, Mark J Magera, Pierre Allard, et al.
Blood. Red Cells & Iron
|
April 20, 2026
Hemoglobin alpha-like subunit mu is expressed during ontogeny and is elevated in alpha thalassemia
Kishore Garapati, Sandip Chavan, Anikha Bellad, et al.
The Journal of Molecular Diagnostics : JMD
|
August 27, 2025
Clinical Assessment of Next-Generation Sequencing Probe Reproducibility in Short-Read Sequencing (ClinRay) Using Digital Twins
Rohan Gnanaolivu, Neiladri Saha, Noemi Vidal-Folch, et al.
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of 10