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Journal of Inherited Metabolic Disease
|
May 27, 2016
Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Marcus J Miller, Adam D Kennedy, Andrea D Eckhart, et al.
American Journal of Medical Genetics. Part A
|
October 13, 2020
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Chaofan Zhang, Juliana F Mazzeu, Jesper Eisfeldt, et al.
Molecular Genetics and Metabolism
|
December 23, 2017
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling
Kevin E Glinton, Paul J Benke, Matthew A Lines, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2015
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Marcus J Miller, Adam D Kennedy, Andrea D Eckhart, et al.
Frontiers in Neuroscience
|
May 29, 2019
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis
Adam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Molecular Genetics and Metabolism
|
October 18, 2011
Acute management of propionic acidemia
Kimberly A Chapman, Andrea Gropman, Erin MacLeod, et al.
American Journal of Medical Genetics. Part A
|
December 11, 2025
Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health
Julia M Morales, Camille F Villar, Beatriz Varman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 24, 2019
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders
Lindsay C Burrage, Lillian Thistlethwaite, Bridget M Stroup, et al.
Genome Medicine
|
February 7, 2013
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
Matthew N Bainbridge, Hao Hu, Donna M Muzny, et al.
Molecular Genetics and Metabolism
|
October 4, 2011
Chronic management and health supervision of individuals with propionic acidemia
V Reid Sutton, Kimberly A Chapman, Andrea L Gropman, et al.
Page
of 19
Search research articles
Search
Showing results (101-110 of 184) with videos related to
Sort By:
Page
of 19
Journal of Inherited Metabolic Disease
|
May 27, 2016
Erratum to: Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Marcus J Miller, Adam D Kennedy, Andrea D Eckhart, et al.
American Journal of Medical Genetics. Part A
|
October 13, 2020
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome
Chaofan Zhang, Juliana F Mazzeu, Jesper Eisfeldt, et al.
Molecular Genetics and Metabolism
|
December 23, 2017
Disturbed phospholipid metabolism in serine biosynthesis defects revealed by metabolomic profiling
Kevin E Glinton, Paul J Benke, Matthew A Lines, et al.
Journal of Inherited Metabolic Disease
|
April 16, 2015
Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism
Marcus J Miller, Adam D Kennedy, Andrea D Eckhart, et al.
Frontiers in Neuroscience
|
May 29, 2019
2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis
Adam D Kennedy, Kirk L Pappan, Taraka Donti, et al.
Molecular Genetics and Metabolism
|
October 18, 2011
Acute management of propionic acidemia
Kimberly A Chapman, Andrea Gropman, Erin MacLeod, et al.
American Journal of Medical Genetics. Part A
|
December 11, 2025
Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health
Julia M Morales, Camille F Villar, Beatriz Varman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 24, 2019
Untargeted metabolomic profiling reveals multiple pathway perturbations and new clinical biomarkers in urea cycle disorders
Lindsay C Burrage, Lillian Thistlethwaite, Bridget M Stroup, et al.
Genome Medicine
|
February 7, 2013
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome
Matthew N Bainbridge, Hao Hu, Donna M Muzny, et al.
Molecular Genetics and Metabolism
|
October 4, 2011
Chronic management and health supervision of individuals with propionic acidemia
V Reid Sutton, Kimberly A Chapman, Andrea L Gropman, et al.
Page
of 19