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European Journal of Medical Genetics|December 25, 2012
Hepatoblastoma in a child with a paternally-inherited ABCC8 mutation and mosaic paternal uniparental disomy 11p causing focal congenital hyperinsulinismElizabeth A Calton, I Karen Temple, Deborah J G Mackay, et al.
Lancet (London, England)|August 2, 2015
The effect of early, comprehensive genomic testing on clinical care in neonatal diabetes: an international cohort studyElisa De Franco, Sarah E Flanagan, Jayne A L Houghton, et al.
European Journal of Human Genetics : EJHG|August 13, 2015
Biallelic RFX6 mutations can cause childhood as well as neonatal onset diabetes mellitusFrancis H Sansbury, Birgül Kirel, Richard Caswell, et al.
Diabetes Care|November 1, 2018
Cognitive, Neurological, and Behavioral Features in Adults With KCNJ11 Neonatal DiabetesPamela Bowman, Jacob Day, Lorna Torrens, et al.
Pediatrics|August 20, 2016
Prematurity and Genetic Testing for Neonatal DiabetesRachel E J Besser, Sarah E Flanagan, Deborah G J Mackay, et al.
European Journal of Endocrinology|October 11, 2021
Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11Thomas I Hewat, Daphne Yau, Joseph C S Jerome, et al.
Diabetic Medicine : a Journal of the British Diabetic Association|March 1, 2008
Sulphonylurea therapy improves cognition in a patient with the V59M KCNJ11 mutationA S Slingerland, W Hurkx, K Noordam, et al.
The Journal of Dairy Research|September 10, 2004
Changes in lipid fractions and sensory properties of Idiazabal cheese induced by lipase additionLuis J R Barron, Igor Hernández, Ainhoa Bilbao, et al.
Diabetes|October 19, 2007
Mosaic paternal uniparental isodisomy and an ABCC8 gene mutation in a patient with permanent neonatal diabetes and hemihypertrophyJulian P H Shield, Sarah E Flanagan, Deborah J Mackay, et al.
SLAS Discovery : Advancing Life Sciences R & D|January 8, 2021
Selecting Approaches for Hit Identification and Increasing Options by Building the Efficient Discovery of Actionable Chemical Matter from DNA-Encoded LibrariesTimothy L Foley, Woodrow Burchett, Qiuxia Chen, et al.
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