Associated Papers
Undiagnosed rare disease clinic identifies a novel UBE3A variant in two sisters with Angelman syndrome: The end of a diagnostic odyssey.
Bruns R et al.
Congenital Anomalies, 2024
Assessment of Interlaboratory Variation in the Interpretation of Genomic Test Results in Patients With Epilepsy.
SoRelle JA et al.
Jama Network Open, 2020
32347949 (PubMed )
Supplement: jamanetwopen-3-e203812-s001.pdf
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