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The Journal of Clinical Investigation
|
February 6, 2015
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Michaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Gabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
Monica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Annals of Neurology
|
April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Emily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
The New England Journal of Medicine
|
June 5, 2024
Genome Sequencing for Diagnosing Rare Diseases
Monica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
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Search research articles
Search
Showing results (61-70 of 65) with videos related to
Sort By:
Page
of 7
You have reached the last page of results.
This site can display upto 65 results.
The Journal of Clinical Investigation
|
February 6, 2015
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy
Michaela Yuen, Sarah A Sandaradura, James J Dowling, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2021
Biallelic and monoallelic variants in PLXNA1 are implicated in a novel neurodevelopmental disorder with variable cerebral and eye anomalies
Gabriel C Dworschak, Jaya Punetha, Jeshurun C Kalanithy, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 8, 2024
Unique Capabilities of Genome Sequencing for Rare Disease Diagnosis
Monica H Wojcik, Gabrielle Lemire, Maha S Zaki, et al.
Annals of Neurology
|
April 26, 2018
Congenital Titinopathy: Comprehensive characterization and pathogenic insights
Emily C Oates, Kristi J Jones, Sandra Donkervoort, et al.
The New England Journal of Medicine
|
June 5, 2024
Genome Sequencing for Diagnosing Rare Diseases
Monica H Wojcik, Gabrielle Lemire, Eva Berger, et al.
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of 7