Rare Diseases
Records 1 - 4 (of 4 Records) |
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Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets. Ben Weisburd et al. medRxiv 2024 |
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases. Kim Man Jin et al. Annals of laboratory medicine 2022 43(3) 280-289 |
Clinical utility of multigene analysis in over 25,000 patients with neuromuscular disorders. Winder Thomas L et al. Neurology. Genetics 2020 Apr 6(2) e412 |
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit. Daoud Hussein et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2016 May |