Last Updated: 09/26/2026
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Found 9 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
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG).
Journal: Molecular genetics and metabolism
Published: March 30, 2024
Treatment and outcomes of symptomatic hyperammonemia following asparaginase therapy in children with acute lymphoblastic leukemia.
Journal: Molecular genetics and metabolism
Published: March 29, 2023
Outpatient Primary Care Genetic Testing Primer: What to Order and Testing Considerations.
Journal: Missouri medicine
Published: September 19, 2022
Infantile-onset Pompe disease complicated by sickle cell anemia: Case report and management considerations.
Journal: Frontiers in pediatrics
Published: May 14, 2022
Showing 1-9 of 9
Last Updated: 09/26/2026