Hyperinsulinism in an individual with an EP300 variant of
Por um escritor misterioso
Last updated 22 dezembro 2024
Bioinformatics Analysis of Next Generation Sequencing Data Identifies Molecular Biomarkers Associated With Type 2 Diabetes Mellitus - Varun Alur, Varshita Raju, Basavaraj Vastrad, Chanabasayya Vastrad, Satish Kavatagimath, Shivakumar Kotturshetti, 2023
PDF) Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation, Italian Journal of Pediatrics
Glycemic control releases regenerative potential of pancreatic beta cells blocked by severe hyperglycemia - ScienceDirect
Hyperinsulinism in an individual with an EP300 variant of Rubinstein‐Taybi syndrome - Wild - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
Genetic Subtypes – Hyperinsulinism Genes
IJMS, Free Full-Text
Hyperinsulinemic Hypoglycemia and Growth Hormone Deficiency Secondary to 20p11 Deletion
PDF) Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation
Congenital Hyperinsulinism
Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
PPARγ signaling and emerging opportunities for improved therapeutics - ScienceDirect
Clinical epigenetics: a primer for the practitioner - Aygun - 2020 - Developmental Medicine & Child Neurology - Wiley Online Library
Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation, Italian Journal of Pediatrics
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
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