Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Por um escritor misterioso
Last updated 11 março 2025


Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Psychiatric Profile in Rubinstein-Taybi Syndrome

Multiple pilomatricomas in twins with Rubinstein-Taybi syndrome

Long-term results following osteotomy of the thumb delta phalanx in Rubinstein–Taybi Syndrome - A. Jain, S. Rehman, G. Smith, 2010

Genes, Free Full-Text

PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome

Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine

Genes, Free Full-Text

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations

First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open

PDF) Rubinstein-Taybi syndrome medical guidelines

IJMS, Free Full-Text

PDF) Epigenetic Mechanisms of Rubinstein–Taybi Syndrome

Rubinstein-Taybi syndrome: MedlinePlus Genetics

Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
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