Last Updated: 09/26/2026
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Found 6 publications
Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range.
Journal: medRxiv : the preprint server for health sciences
Published: February 24, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.
Journal: American journal of human genetics
Published: February 03, 2025
Delayed Diagnosis of Glutaric Aciduria Type 1: A Case Report.
Journal: Cureus
Published: July 26, 2024
Testing With Intent in Mosaic Conditions: A Case-Based Review.
Journal: Cureus
Published: August 11, 2023
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 08, 2022
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 28, 2021
Showing 1-6 of 6
Last Updated: 09/26/2026