Associated Papers
Clinical and Genetic Characteristics of Congenital Hyperinsulinism in Norway: A Nationwide Cohort Study.
Velde CD et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Diazoxide toxicity in congenital hyperinsulinism: A case report.
Pajno R et al.
World Journal of Clinical Pediatrics, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Case Report: The importance of genetic counseling for families with hyperinsulinism.
Sanders VR et al.
Frontiers in Pediatrics, 2024
Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.
Billings LK et al.
Endocrinology, Diabetes & Metabolism, 2022
Congenital anomalies and genetic disorders in neonates and infants: a single-center observational cohort study.
Marouane A et al.
European Journal of Pediatrics, 2022
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
[Clinical, genetic, and radionuclide characteristics of the focal form of congenital hyperinsulinism].
Gubaeva DN et al.
Problemy Endokrinologii, 2019
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Defining the blanks--pharmacochaperoning of SLC6 transporters and ABC transporters.
Chiba P et al.
Pharmacological Research, 2014
Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.
Faletra F et al.
Gene, 2013
Functional hot spots in human ATP-binding cassette transporter nucleotide binding domains.
Kelly L et al.
Protein Science : a Publication of the Protein Society, 2010
The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.
Sandal T et al.
Clinical Genetics, 2009