PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
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PDF) Rubinstein-Taybi syndrome medical guidelines
Oliver BARTSCH, Medical Doctor, Professor, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Institute of Human Genetics
PDF) Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
Rubinstein-Taybi syndrome (CREBBP, EP300)
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
PDF) Rubinstein-Taybi syndrome medical guidelines
PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: A case report
PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: A case report
PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: A case report
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: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
PDF) Rubinstein-Taybi syndrome medical guidelines
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
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