Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
Por um escritor misterioso
Last updated 24 janeiro 2025
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Genes, Free Full-Text
Brain Sciences, Free Full-Text
Epigenetic Mechanisms of Rubinstein–Taybi Syndrome
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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