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rubinstein taybi omim
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Mosaic CREBBP mutation causes overlapping clinical features of
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
Rubinstein‐Taybi syndrome in Chinese population with four novel
Frontiers BETting on a Transcriptional Deficit as the Main Cause for Cornelia de Lange Syndrome
A novel CREBBP mutation and its phenotype in a case of Rubinstein
New insights into genetic variant spectrum and genotype–phenotype
Main clinical findings of the 16 Brazilian patients with
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
PDF) Rubinstein-Taybi syndrome medical guidelines
Rubinstein–Taybi syndrome in diverse populations - Tekendo
About - DECIPHER v11.23
Ocular symptoms in patients with Rubinstein-Taybi syndrome; 117 out of
PDF) Rubinstein-Taybi syndrome: Dental manifestations and management
Rubinstein-Taybi syndrome: Dental manifestations and management
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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