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.
Oliver BARTSCH, Medical Doctor, Professor, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Mainz, Institute of Human Genetics
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) Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene
PDF) Case Report: Rubinstein-Taybi Syndrome
PDF) Whole exome sequencing reveals EP300 mutation in mildly affected female: expansion of the spectrum
PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
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) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
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) Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
de
por adulto (o preço varia de acordo com o tamanho do grupo)
