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Diagnostic Pathology|January 5, 2017
Case report: maternal mosaicism resulting in inheritance of a novel GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitusDaphne Yau, Elisa De Franco, Sarah E Flanagan, et al.Journal of Pediatric Genetics|August 22, 2022
Importance of Immediate Thiamine Therapy in Children with Suspected Thiamine-Responsive Megaloblastic Anemia-Report on Two Patients Carrying a Novel <i>SLC19A2</i> Gene MutationAnita Spehar Uroic, Dragan Milenkovic, Elisa De Franco, et al.Journal of Clinical Research in Pediatric Endocrinology|August 22, 2020
Genotype and Phenotype Heterogeneity in Neonatal Diabetes: A Single Centre Experience in TurkeyYasemin Denkboy Öngen, Erdal Eren, Özgecan Demirbaş, et al.Molecular Metabolism|June 26, 2021
In celebration of a century with insulin - Update of insulin gene mutations in diabetesJulie Støy, Elisa De Franco, Honggang Ye, et al.Journal of Diabetes Investigation|March 10, 2025
Two cases of neonatal hyperglycemia caused by a homozygous COQ9 stop-gain variantRussell Donis, Maryam Al Badi, Nadia Alhashmi, et al.Indian Pediatrics|July 2, 2017
Clinical and Molecular Characterization of Children with Neonatal Diabetes Mellitus at a Tertiary Care Center in Northern IndiaVandana Jain, Amit Satapathy, Jaivinder Yadav, et al.Diabetes|December 11, 2012
GATA6 mutations cause a broad phenotypic spectrum of diabetes from pancreatic agenesis to adult-onset diabetes without exocrine insufficiencyElisa De Franco, Charles Shaw-Smith, Sarah E Flanagan, et al.Diabetologia|July 16, 2025
Global perspectives on monogenic forms of diabetesJames Russ-Silsby, Milena Teles, Samar S Hassan, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|January 7, 2018
Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutationMelek Yildiz, Teoman Akcay, Banu Aydin, et al.Journal of Pediatric Endocrinology & Metabolism : JPEM|May 30, 2019
Wolcott-Rallison syndrome in Iran: a common cause of neonatal diabetesSamaneh Noroozi Asl, Rahim Vakili, Saba Vakili, et al.Pageof 10