Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect
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Last updated 08 setembro 2024
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Bi-allelic loss-of-function variants in TMEM147 cause moderate to
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Cureus Rubinstein-Taybi Syndrome Associated with Pituitary
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PDF) Autistic spectrum disorder (ASD) – Gene, molecular and
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Chemical and genetic rescue of an ep300 knockdown model for
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Novel cAMP binding protein-BP (CREBBP) mutation in a girl with
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S0925443918300401-gr1.jpg)
Chemical and genetic rescue of an ep300 knockdown model for
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Disorders of Microtubule Function in Neurons: Imaging Correlates
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S1110863016000203-gr6.jpg)
C syndrome with skeletal anomalies, mental retardation, eyelid
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://ars.els-cdn.com/content/image/3-s2.0-B9780128167687000119-f11-01-9780128167687.jpg)
Epigenetic syndromes with immune deficiency - ScienceDirect
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Clinical and MRI spectrum of CFEOM patients with TUBB3 variants
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S0925443918300401-gr3.jpg)
Chemical and genetic rescue of an ep300 knockdown model for
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S1044743117302786-gr2.jpg)
Chromatin remodeling and epigenetic regulation of oligodendrocyte
![Clinical and mutational spectrum in Korean patients with Rubinstein–Taybi syndrome: The spectrum of brain MRI abnormalities - ScienceDirect](https://ars.els-cdn.com/content/image/1-s2.0-S0002929712002613-gr3.jpg)
Translocations Disrupting PHF21A in the Potocki-Shaffer-Syndrome
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