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Plos Computational Biology
|
April 25, 2009
Mapping gene associations in human mitochondria using clinical disease phenotypes
Curt Scharfe, Henry Horng-Shing Lu, Jutta K Neuenburg, et al.
The Journal of Pediatrics
|
March 16, 2015
Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation
Anna-Kaisa Niemi, Irene K Kim, Casey E Krueger, et al.
Journal of Inherited Metabolic Disease
|
August 5, 2016
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine
Natalia Gomez-Ospina, Anna I Scott, Gia J Oh, et al.
American Journal of Medical Genetics. Part A
|
October 20, 2021
Variable clinical severity in TANGO2 deficiency: Case series and literature review
Jennifer Schymick, Peter Leahy, Tina Cowan, et al.
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.
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.
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of 14
Search research articles
Search
Showing results (71-80 of 135) with videos related to
Sort By:
Page
of 14
Plos Computational Biology
|
April 25, 2009
Mapping gene associations in human mitochondria using clinical disease phenotypes
Curt Scharfe, Henry Horng-Shing Lu, Jutta K Neuenburg, et al.
The Journal of Pediatrics
|
March 16, 2015
Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation
Anna-Kaisa Niemi, Irene K Kim, Casey E Krueger, et al.
Journal of Inherited Metabolic Disease
|
August 5, 2016
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine
Natalia Gomez-Ospina, Anna I Scott, Gia J Oh, et al.
American Journal of Medical Genetics. Part A
|
October 20, 2021
Variable clinical severity in TANGO2 deficiency: Case series and literature review
Jennifer Schymick, Peter Leahy, Tina Cowan, et al.
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.
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.
Page
of 14