Hyperinsulinism in an individual with an EP300 variant of
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Proteasomal degradation of the histone acetyl transferase p300 contributes to beta-cell injury in a diabetes environment
Syndromic and Monogenic Obesity
PDF) Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
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Bioinformatics Analysis of next generation sequencing data for Risk Prediction in Patients with Type 1 diabetes mellitus
Proteasomal degradation of the histone acetyl transferase p300 contributes to beta-cell injury in a diabetes environment
Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
Sarah E. Sheppard's research works The Children's Hospital of Philadelphia, PA (CHOP) and other places
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