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Publications by Margot A. Cousin
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy With Contractures, Macrocephaly, and Dyskinesias
American Journal of Human Genetics
Genetics
RINT1 Bi-Allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities
American Journal of Human Genetics
Genetics
The Value of Systematic Reviews in Estimating the Cost and Barriers to Translation in Tissue Engineering
Tissue Engineering - Part B: Reviews
Biochemistry
Bioengineering
Biomaterials
Biomedical Engineering
A Tailored Approach to Fusion Transcript Identification Increases Diagnosis of Rare Inherited Disease
PLoS ONE
Multidisciplinary
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