Last Updated: 09/26/2026
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Found 4 publications
Neck Mass in a 12-year-old Girl with Autism Spectrum Disorder.
Journal: Pediatrics in review
Published: April 22, 2022
De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.
Journal: European journal of human genetics : EJHG
Published: August 18, 2017
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.
Journal: Clinical genetics
Published: November 08, 2016
Incomplete follow-up of hemoglobinopathy carriers identified by newborn screening despite reporting in electronic medical records.
Journal: Journal of the National Medical Association
Published: February 28, 2012
Showing 1-4 of 4
Last Updated: 09/26/2026