11 results on '"Lehman, Anna"'
Search Results
2. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
3. Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
4. Retrospective review of recent ASA prescribing practices for primary prevention of major adverse cardiovascular events in the Canadian Fabry Disease Initiative cohort
5. FollowME Fabry Pathfinders Registry: Renal effectiveness in a cohort of patients on migalastat treatment for at least three years
6. Glycosphingolipid evaluation for Fabry disease patients receiving migalastat after switching from enzyme replacement therapy
7. Chest pain subtype prevalence in the British Columbia cohort of the Canadian Fabry Disease Initiative
8. Evaluation of the diagnostic accuracy of exome sequencing and its impact on diagnostic thinking for patients with rare disease in a publicly funded health care system: A prospective cohort study
9. Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.
10. Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism
11. Renal and multisystem effectiveness of 3.9 years of migalastat in a global real-world cohort: Results from the followME Fabry Pathfinders registry.
Catalog
Books, media, physical & digital resources
Discovery Service for Jio Institute Digital Library
For full access to our library's resources, please sign in.