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UnknownDiscovery of a novel site regulating glucokinase activity following characterization of a new mutation causing hyperinsulinemic hypoglycemia in humans.
Not available
S-EPMC3099725 | biostudies-literature
UnknownPaternal Uniparental Isodisomy of Chromosome 11p15.5 within the Pancreas Causes Isolated Hyperinsulinemic Hypoglycemia.
Not available
S-EPMC3356130 | biostudies-literature
UnknownQuality of life in MAP.3 (Mammary Prevention 3): a randomized, placebo-controlled trial evaluating exemestane for prevention of breast cancer.
Not available
S-EPMC4879707 | biostudies-literature
UnknownBiallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly.
Not available
S-EPMC7908744 | biostudies-literature
UnknownMutations of the same conserved glutamate residue in NBD2 of the sulfonylurea receptor 1 subunit of the KATP channel can result in either hyperinsulinism or neonatal diabetes.
Not available
S-EPMC3114383 | biostudies-literature
UnknownAlagille syndrome: pathogenesis, diagnosis and management.
Not available
S-EPMC3283172 | biostudies-literature
Unknown100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
Not available
S-EPMC7613219 | biostudies-literature
UnknownThe HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype.
Not available
S-EPMC3932761 | biostudies-literature
UnknownDe Novo Mutations in EIF2B1 Affecting eIF2 Signaling Cause Neonatal/Early-Onset Diabetes and Transient Hepatic Dysfunction.
Not available
S-EPMC7100014 | biostudies-literature
UnknownPhysiotherapy rehabilitation experiences of people with shoulder dislocation in ARTISAN study: a qualitative study.
Not available
S-EPMC11409240 | biostudies-literature
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