PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch

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Last updated 23 março 2025
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300)  Martine van Belzen and  Oliver Bartsch
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PDF) Rubinstein–Taybi syndrome (CREBBP, EP300)  Martine van Belzen and  Oliver Bartsch
PDF) Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4 , DNASE1 , TRAP1 , and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300)  Martine van Belzen and  Oliver Bartsch
PDF) Rubinstein-Taybi syndrome: Clinical profile of 11 patients and review of literature
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300)  Martine van Belzen and  Oliver Bartsch
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300)  Martine van Belzen and  Oliver Bartsch
PDF) Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3)
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300)  Martine van Belzen and  Oliver Bartsch
PDF) Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300)  Martine van Belzen and  Oliver Bartsch
PDF) Case Report: Low-Level Maternal Mosaicism of a Novel CREBBP Variant Causes Recurrent Rubinstein-Taybi Syndrome in Two Siblings of a Chinese Family
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300)  Martine van Belzen and  Oliver Bartsch
PDF) Case Report: Rubinstein-Taybi Syndrome
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300)  Martine van Belzen and  Oliver Bartsch
Oliver BARTSCH, Medical Doctor, Professor, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Institute of Human Genetics
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300)  Martine van Belzen and  Oliver Bartsch
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome

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