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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 9, 2023
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Loren D M Peña, Lindsay C Burrage, Gregory M Enns, et al.
Molecular Genetics and Metabolism
|
August 11, 2019
Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework
Jennifer L McGlaughon, Marzia Pasquali, Kathleen Wallace, et al.
Journal of Animal Science
|
May 16, 2006
Effects of a long-acting, trace mineral, reticulorumen bolus on range cow productivity and trace mineral profiles
J E Sprinkle, S P Cuneo, H M Frederick, et al.
American Journal of Medical Genetics. Part A
|
March 8, 2023
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype
Christina G Tise, Courtney P Verscaj, Bryce A Mendelsohn, et al.
American Journal of Medical Genetics. Part A
|
January 19, 2008
Progressive cerebral vascular degeneration with mitochondrial encephalopathy
Nicola Longo, Iris Schrijver, Hannes Vogel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 5, 2013
Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders
Hong Cui, Fangyuan Li, David Chen, et al.
Pediatric Neurology
|
April 13, 2016
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder
Amitha L Ananth, Amy Robichaux-Viehoever, Young-Min Kim, et al.
Molecular Genetics and Metabolism
|
October 23, 2012
Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease
Francis G Blankenberg, Stephen L Kinsman, Bruce H Cohen, et al.
Molecular Genetics and Metabolism
|
April 16, 2013
Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies
Anna Pastore, Sara Petrillo, Giulia Tozzi, et al.
Journal of Animal Science
|
March 14, 2002
Relationships of metabolic hormones and serum glucose to growth and reproductive development in performance-tested Angus, Brangus, and Brahman bulls
M G Thomas, R M Enns, D M Hallford, et al.
Page
of 21
Search research articles
Search
Showing results (141-150 of 208) with videos related to
Sort By:
Page
of 21
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 9, 2023
Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Loren D M Peña, Lindsay C Burrage, Gregory M Enns, et al.
Molecular Genetics and Metabolism
|
August 11, 2019
Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework
Jennifer L McGlaughon, Marzia Pasquali, Kathleen Wallace, et al.
Journal of Animal Science
|
May 16, 2006
Effects of a long-acting, trace mineral, reticulorumen bolus on range cow productivity and trace mineral profiles
J E Sprinkle, S P Cuneo, H M Frederick, et al.
American Journal of Medical Genetics. Part A
|
March 8, 2023
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype
Christina G Tise, Courtney P Verscaj, Bryce A Mendelsohn, et al.
American Journal of Medical Genetics. Part A
|
January 19, 2008
Progressive cerebral vascular degeneration with mitochondrial encephalopathy
Nicola Longo, Iris Schrijver, Hannes Vogel, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
January 5, 2013
Comprehensive next-generation sequence analyses of the entire mitochondrial genome reveal new insights into the molecular diagnosis of mitochondrial DNA disorders
Hong Cui, Fangyuan Li, David Chen, et al.
Pediatric Neurology
|
April 13, 2016
Clinical Course of Six Children With GNAO1 Mutations Causing a Severe and Distinctive Movement Disorder
Amitha L Ananth, Amy Robichaux-Viehoever, Young-Min Kim, et al.
Molecular Genetics and Metabolism
|
October 23, 2012
Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease
Francis G Blankenberg, Stephen L Kinsman, Bruce H Cohen, et al.
Molecular Genetics and Metabolism
|
April 16, 2013
Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies
Anna Pastore, Sara Petrillo, Giulia Tozzi, et al.
Journal of Animal Science
|
March 14, 2002
Relationships of metabolic hormones and serum glucose to growth and reproductive development in performance-tested Angus, Brangus, and Brahman bulls
M G Thomas, R M Enns, D M Hallford, et al.
Page
of 21