Showing results (31-40 of 68) with videos related to

Sort By:
Pageof 7
Human Molecular Genetics|April 15, 2006
A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetesPeter Proks, Amanda L Arnold, Jan Bruining, et al.
Kidney International Reports|September 14, 2019
HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During ChildhoodShazia Adalat, Wesley N Hayes, William A Bryant, et al.
Metabolism: Clinical and Experimental|May 20, 2017
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)Sahar Elouej, Ana Beleza-Meireles, Richard Caswell, et al.
Pediatric Diabetes|June 11, 2015
Characteristics of maturity onset diabetes of the young in a large diabetes centerChristina Chambers, Alexandra Fouts, Fran Dong, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|December 5, 2020
Evaluation of pregnancy outcomes in women with GCK-MODYCristina López Tinoco, Begoña Sánchez Lechuga, Siobhan Bacon, et al.
Nature Metabolism|September 9, 2025
Common genetic variants modify disease risk and clinical presentation in monogenic diabetesJacques Murray Leech, Robin N Beaumont, Ankit M Arni, et al.
Diabetes Care|July 14, 2017
Population-Based Assessment of a Biomarker-Based Screening Pathway to Aid Diagnosis of Monogenic Diabetes in Young-Onset PatientsBeverley M Shields, Maggie Shepherd, Michelle Hudson, et al.
Scientific Reports|May 8, 2024
Development of a clinical calculator to aid the identification of MODY in pediatric patients at the time of diabetes diagnosisBeverley M Shields, Annelie Carlsson, Kashyap Patel, et al.
Pediatric Diabetes|January 8, 2013
Home urine C-peptide creatinine ratio (UCPCR) testing can identify type 2 and MODY in pediatric diabetesRachel E J Besser, Beverley M Shields, Suzanne E Hammersley, et al.
Human Molecular Genetics|November 21, 2023
Penetrance and expressivity of mitochondrial variants in a large clinically unselected populationStuart J Cannon, Timothy Hall, Gareth Hawkes, et al.
Pageof 7