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Medrxiv : the Preprint Server for Health Sciences
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January 7, 2025
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease
Georgia Pitsava, Megan Hawley, Light Auriga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 11, 2021
Correction to: 1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic disease
Georgia Pitsava, Megan Hawley, Light Auriga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 6, 2021
1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
World Journal of Pediatrics : WJP
|
June 13, 2026
Pediatric liver transplantation for metabolic diseases: a single-center experience
Gabriel E Gondolesi, Erica Chen, William Zhu, et al.
Human Mutation
|
December 3, 2021
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
Smitha Kumble, Amanda M Levy, Jaya Punetha, et al.
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Search research articles
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Showing results (51-60 of 56) with videos related to
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You have reached the last page of results.
This site can display upto 56 results.
Medrxiv : the Preprint Server for Health Sciences
|
January 7, 2025
Genome sequencing reveals the impact of non-canonical exon inclusions in rare genetic disease
Georgia Pitsava, Megan Hawley, Light Auriga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 11, 2021
Correction to: 1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 10, 2025
Genome sequencing reveals the impact of pseudoexons in rare genetic disease
Georgia Pitsava, Megan Hawley, Light Auriga, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 6, 2021
1-<sup>13</sup>C-propionate breath testing as a surrogate endpoint to assess efficacy of liver-directed therapies in methylmalonic acidemia (MMA)
Irini Manoli, Alexandra R Pass, Elizabeth A Harrington, et al.
World Journal of Pediatrics : WJP
|
June 13, 2026
Pediatric liver transplantation for metabolic diseases: a single-center experience
Gabriel E Gondolesi, Erica Chen, William Zhu, et al.
Human Mutation
|
December 3, 2021
The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder
Smitha Kumble, Amanda M Levy, Jaya Punetha, et al.
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of 6