Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Por um escritor misterioso
Descrição
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
PDF) A case of Rubinstein-Taybi Syndrome with a CREBbinding protein gene mutation
Psychiatric Profile in Rubinstein-Taybi Syndrome
Rubinstein-Taybi syndrome: MedlinePlus Genetics
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
Adults with Rubinstein–Taybi syndrome - Stevens - 2011 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Rubinstein-Taybi syndrome medical guidelines
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Rubinstein-Taybi Syndrome
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
de
por adulto (o preço varia de acordo com o tamanho do grupo)
