PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
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Last updated 12 novembro 2024
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Rubinstein-Taybi syndrome (CREBBP, EP300)
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
PDF) Rubinstein-Taybi syndrome medical guidelines
PDF) Publics and biobanks: Pan-European diversity and the challenge of responsible innovation
PDF) Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene
PDF) Fluorescein angiography findings in a case of Rubinstein-Taybi syndrome
Rubinstein–Taybi syndrome (CREBBP, EP300)
PDF) Case Report: Rubinstein-Taybi Syndrome
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) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
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