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Clinical Genetics|November 27, 2024
The p.(Gly111Arg) ABCC8 Variant: A Founder Mutation Causing Congenital Hyperinsulinism in the Indian Agarwal CommunityVandana Jain, Venkatesan Radha, Viswanathan Mohan, et al.Frontiers in Endocrinology|March 5, 2025
Large copy number variants are an important cause of congenital hyperinsulinism that should be screened for during routine testingSarah E Flanagan, Isabella-Anna Lazaridi, Jonna M E Männistö, et al.Journal of Medical Genetics|March 31, 2026
Long-read sequencing enables trio-assisted phasing of de novo variants in the imprinted gene MAGEL2Thomas W Laver, Preeah Sangha, Lucy Mallin, et al.Journal of the Endocrine Society|April 2, 2026
Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinismJonna M E Männistö, Jayne A L Houghton, Jasmin J Bennett, et al.Plos One|August 19, 2025
Characterization of congenital hyperinsulinism in Argentina: Clinical features, genetic findings, and treatment outcomesGabriela Pacheco, Maria G Bastida, Juan Cáceres, et al.Ebiomedicine|May 25, 2026
Low-level mosaic variants causing the pancreatic disease congenital hyperinsulinism can be detected from blood DNAJasmin J Bennett, Thomas W Laver, Jonna M E Männistö, et al.Genome Medicine|March 3, 2025
Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severityJasmin J Bennett, Cécile Saint-Martin, Bianca Neumann, et al.Pageof 1