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Science Translational Medicine|January 24, 2014
Gene therapy prolongs survival and restores function in murine and canine models of myotubular myopathyMartin K Childers, Romain Joubert, Karine Poulard, et al.
Medrxiv : the Preprint Server for Health Sciences|January 13, 2025
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletionsLydia Sagath, Kirsi Kiiski, Kireshnee Naidu, et al.
Research Square|February 20, 2025
Long-Read Sequencing is Required for Precision Diagnosis of Incontinentia PigmentiMonica H Wojcik, Robin D Clark, Abdallah F Elias, et al.
The American Journal of Psychiatry|August 24, 2022
Similar Rates of Deleterious Copy Number Variants in Early-Onset Psychosis and Autism Spectrum DisorderCatherine A Brownstein, Elise Douard, Josephine Mollon, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|February 27, 2017
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in DogsDavid L Mack, Karine Poulard, Melissa A Goddard, et al.
European Journal of Human Genetics : EJHG|June 14, 2025
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletionsLydia Sagath, Kirsi Kiiski, Kireshnee Naidu, et al.
Emergency Medicine Journal : EMJ|July 15, 2024
Evaluation of the impact of artificial intelligence-assisted image interpretation on the diagnostic performance of clinicians in identifying pneumothoraces on plain chest X-ray: a multi-case multi-reader studyAlex Novak, Sarim Ather, Avneet Gill, et al.
Iscience|January 17, 2022
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19Nikhil Shri Sahajpal, Chi-Yu Jill Lai, Alex Hastie, et al.
Human Mutation|October 21, 2010
The ribosomal basis of Diamond-Blackfan Anemia: mutation and database updateIlenia Boria, Emanuela Garelli, Hanna T Gazda, et al.
Medrxiv : the Preprint Server for Health Sciences|July 7, 2021
Impact of natural selection on global patterns of genetic variation, and association with clinical phenotypes, at genes involved in SARS-CoV-2 infectionChao Zhang, Anurag Verma, Yuanqing Feng, et al.
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