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Medrxiv : the Preprint Server for Health Sciences
|
June 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease
Johan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, et al.
Orphanet Journal of Rare Diseases
|
July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
American Journal of Human Genetics
|
April 30, 2019
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Scott Bell, Justine Rousseau, Huashan Peng, et al.
Molecular Genetics and Metabolism
|
March 27, 2014
Phenylketonuria Scientific Review Conference: state of the science and future research needs
Kathryn M Camp, Melissa A Parisi, Phyllis B Acosta, et al.
Hepatology (Baltimore, Md.)
|
November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate origin
Dominic Lenz, Lea D Schlieben, Masaru Shimura, et al.
Page
of 30
Search research articles
Search
Showing results (291-300 of 295) with videos related to
Sort By:
Page
of 30
You have reached the last page of results.
This site can display upto 295 results.
Medrxiv : the Preprint Server for Health Sciences
|
June 29, 2026
The clinical utility of functional testing in fibroblasts to diagnose primary mitochondrial disease
Johan L K Van Hove, Marisa W Friederich, Roxanne A Van Hove, et al.
Orphanet Journal of Rare Diseases
|
July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
American Journal of Human Genetics
|
April 30, 2019
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons
Scott Bell, Justine Rousseau, Huashan Peng, et al.
Molecular Genetics and Metabolism
|
March 27, 2014
Phenylketonuria Scientific Review Conference: state of the science and future research needs
Kathryn M Camp, Melissa A Parisi, Phyllis B Acosta, et al.
Hepatology (Baltimore, Md.)
|
November 17, 2023
Genetic landscape of pediatric acute liver failure of indeterminate origin
Dominic Lenz, Lea D Schlieben, Masaru Shimura, et al.
Page
of 30