PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
Por um escritor misterioso
Descrição
is a platform for academics to share research papers.
PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report
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
Rubinstein-Taybi syndrome (CREBBP, EP300)
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
PDF) Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation
PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: A case report
Rubinstein–Taybi syndrome (CREBBP, EP300)
PDF) Case Report: Rubinstein-Taybi Syndrome
PDF) Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation
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) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
de
por adulto (o preço varia de acordo com o tamanho do grupo)
