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The Journal of Biological Chemistry|September 29, 2025
Identification and rescue of congenital hyperinsulinism-associated ABCC8 mutations that impair K<sub>ATP</sub> channel traffickingAssmaa ElSheikh, Yi-Ying Kuo, Kara E Boodhansingh, et al.
Journal of Forensic Sciences|March 11, 2014
A molecular method to correlate bloodstains with wound site for crime scene reconstructionDonald J Johnson, Cheryl Andersen, Katherine A Scriven, et al.
Frontiers in Pediatrics|November 1, 2024
Case Report: Functional characterization of a missense variant in <i>INSR</i> associated with hypoketotic hypoglycemiaHerodes Guzman, Lauren M Mitteer, Pan Chen, et al.
Biorxiv : the Preprint Server for Biology|June 6, 2025
Identification and Rescue of Congenital Hyperinsulinism-Associated <i>ABCC8</i> Mutations that Impair K<sub>ATP</sub> Channel TraffickingAssmaa ElSheikh, Yi-Ying Kuo, Kara E Boodhansingh, et al.
Annals of Neurology|November 1, 1989
Idiopathic dystonia among Ashkenazi Jews: evidence for autosomal dominant inheritanceS B Bressman, D de Leon, M F Brin, et al.
American Journal of Medical Genetics. Part A|August 30, 2019
Novel dominant K<sub>ATP</sub> channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotypingKara E Boodhansingh, Balamurugan Kandasamy, Lauren Mitteer, et al.
Advances in Neurology|January 1, 1988
Inheritance of idiopathic torsion dystonia among Ashkenazi JewsS B Bressman, D de Leon, M F Brin, et al.
American Journal of Medical Genetics. Part A|June 12, 2021
PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia onlyAnne Benner, Yazeid Alhaidan, Matthew A Lines, et al.
Frontiers in Endocrinology|July 13, 2026
The impact of subtotal pancreatectomy on people with congenital hyperinsulinism and their caregiversKristen E Rohli, Indraneel Banerjee, Henrik Thybo Christesen, et al.
Journal of Pediatric Surgery|October 23, 2018
Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and childrenN Scott Adzick, Diva D De Leon, Lisa J States, et al.
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