High frequency of copy number imbalances in Rubinstein–Taybi
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PDF) New dysmorphic features in Rubinstein-Taybi syndrome
Genes, Free Full-Text
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease.
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Genes, Free Full-Text
Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
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
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Frontiers Genetic Predisposition to Solid Pediatric Cancers
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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
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