Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Por um escritor misterioso
Descrição
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Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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Rubinstein–Taybi syndrome European Journal of Human Genetics
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Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
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PDF) Rubinstein-Taybi Syndrome: A Case Report
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Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
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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
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Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
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Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
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A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
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Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
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Clinical and Experimental Pediatrics
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Oral and Dental Manifestations in Rubinstein-Taybi Syndrome: Report of a Rare Case
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