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Ultrastructural Pathology
|
February 9, 2011
Unexpected Fabry disease in a renal allograft kidney: an underrecognized cause of poor allograft function
Olga Kochar, Mark R Wick, Sarah E Kerr, et al.
Pediatric Neurology
|
September 26, 2006
Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis
Devin Oglesbee, Debra Freedenberg, Karen A Kramer, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
|
May 14, 2024
Lost in the Sauce: An Atypical Cause of Optic Neuropathy
Jessica A Kraker, Zinandre Stander, Devin Oglesbee, et al.
BMC Medical Genomics
|
June 6, 2026
Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening
Noemi Vidal-Folch, Christian Stout, Jennifer Winters, et al.
Analytical and Bioanalytical Chemistry
|
August 27, 2024
A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis
Jinyong Kim, Seul Kee Byeon, Devin Oglesbee, et al.
Clinical Chemistry
|
October 25, 2018
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy
Noemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, et al.
Journal of Inherited Metabolic Disease
|
November 25, 2024
The clinical utility in hospital-wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA-related disorders
Andrea Cortés Fernández, Jane Estrella, Devin Oglesbee, et al.
Neurobiology of Stress
|
February 19, 2021
Cerebellar and multi-system metabolic reprogramming associated with trauma exposure and post-traumatic stress disorder (PTSD)-like behavior in mice
Graeme Preston, Tim Emmerzaal, Silvia Radenkovic, et al.
Molecular Genetics and Metabolism
|
May 1, 2013
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome
Patricia Hall, Virginia Michels, Dimitar Gavrilov, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 9, 2019
Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Glenn E Palomaki, Caleb Bupp, Anthony R Gregg, et al.
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of 10
Search research articles
Search
Showing results (11-20 of 99) with videos related to
Sort By:
Page
of 10
Ultrastructural Pathology
|
February 9, 2011
Unexpected Fabry disease in a renal allograft kidney: an underrecognized cause of poor allograft function
Olga Kochar, Mark R Wick, Sarah E Kerr, et al.
Pediatric Neurology
|
September 26, 2006
Normal muscle respiratory chain enzymes can complicate mitochondrial disease diagnosis
Devin Oglesbee, Debra Freedenberg, Karen A Kramer, et al.
Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society
|
May 14, 2024
Lost in the Sauce: An Atypical Cause of Optic Neuropathy
Jessica A Kraker, Zinandre Stander, Devin Oglesbee, et al.
BMC Medical Genomics
|
June 6, 2026
Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screening
Noemi Vidal-Folch, Christian Stout, Jennifer Winters, et al.
Analytical and Bioanalytical Chemistry
|
August 27, 2024
A multiplexed targeted method for profiling of serum gangliosides and glycosphingolipids: application to GM2-gangliosidosis
Jinyong Kim, Seul Kee Byeon, Devin Oglesbee, et al.
Clinical Chemistry
|
October 25, 2018
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular Atrophy
Noemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, et al.
Journal of Inherited Metabolic Disease
|
November 25, 2024
The clinical utility in hospital-wide use of growth differentiation factor 15 as a biomarker for mitochondrial DNA-related disorders
Andrea Cortés Fernández, Jane Estrella, Devin Oglesbee, et al.
Neurobiology of Stress
|
February 19, 2021
Cerebellar and multi-system metabolic reprogramming associated with trauma exposure and post-traumatic stress disorder (PTSD)-like behavior in mice
Graeme Preston, Tim Emmerzaal, Silvia Radenkovic, et al.
Molecular Genetics and Metabolism
|
May 1, 2013
Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome
Patricia Hall, Virginia Michels, Dimitar Gavrilov, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 9, 2019
Laboratory screening and diagnosis of open neural tube defects, 2019 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)
Glenn E Palomaki, Caleb Bupp, Anthony R Gregg, et al.
Page
of 10