High frequency of copy number imbalances in Rubinstein–Taybi

Design, Construction and Validation of Targeted BAC Array-Based CGH Test for Detecting the Most Commons Chromosomal Abnormalities - Stefano Gambardella, Erika Ciabattoni, Francesca Motta, Giusy Stoico, Francesca Gullotta, Michela Biancolella, Anna Maria

Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans - ScienceDirect

Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans - ScienceDirect

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PDF) New dysmorphic features in Rubinstein-Taybi syndrome

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

Copy number (CN) determination using B allele frequency (BAF) and Log R

PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.

PDF) New mutation of Rubinstein-Taybi Syndrome

Genes, Free Full-Text

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PDF) Rubinstein-Taybi syndrome in diverse populations

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

Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization, BMC Genomics