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) 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
Rubinstein-Taybi syndrome (CREBBP, EP300)
PDF) Rubinstein-Taybi syndrome medical guidelines
PDF) Rubinstein–Taybi syndrome 2 with cerebellar abnormality and neural tube defect
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
PDF) Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
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)
