Associated Papers
Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.
Jin E et al.
Ophthalmic Genetics, 2024
Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.
Sosinsky A et al.
Nature Medicine, 2024
38200255 (PubMed )
Supplement: 41591_2023_2682_MOESM3_ESM.xlsx › Table_S1
Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.
Van Gils J et al.
Genes, 2021
34202860 (PubMed )
Supplement: genes-12-00968-s001.zip › genes-1248377-supplementary.pdf
New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.
Pérez-Grijalba V et al.
Molecular Genetics & Genomic Medicine, 2019
Genotype-phenotype correlations in Rubinstein-Taybi syndrome.
Schorry EK et al.
American Journal of Medical Genetics. Part A, 2008
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