Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
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Leveraging the Mendelian Disorders of the Epigenetic Machinery to Systematically Map Functional Epigenetic Variation
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine
PDF] Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC
PDF) Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
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PDF] Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis
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