Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect
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Last updated 31 janeiro 2025
Rubinstein‐Taybi syndrome in Chinese population with four novel
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel
Epigenetic syndromes with immune deficiency - ScienceDirect
Rubinstein-Taybi syndrome Radiology Reference Article
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PDF) Stress and the Emerging Roles of Chromatin Remodeling in
PRPS1 Mutations: Four Distinct Syndromes and Potential Treatment
Chromatin remodeling and epigenetic regulation of oligodendrocyte
Chemical and genetic rescue of an ep300 knockdown model for
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome
PRRT2 mutation in a Japanese woman: Adult-onset focal epilepsy
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