Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
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PDF) Identification of a novel de novo mutation of CREBBP in a
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel
PDF) Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in
Microdeletions and mutations of CREBBP (CBP) gene can cause
PDF) Inheritance and variable expression in Rubinstein-Taybi
Two adults with Rubinstein–Taybi syndrome with mild mental
PDF] Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations
Opposing Effects of CREBBP Mutations Govern the Phenotype of
PDF) Rubinstein-Taybi syndrome in a Saudi boy with distinct
Rubinstein-Taybi Syndrome
Insights into genotype–phenotype correlations from CREBBP point
Rubinstein–Taybi syndrome: clinical and molecular overview
PDF) Spectrum of CREBBP mutations in Indian patients with
PDF) Whole Exome Sequencing for a Patient with Rubinstein-Taybi
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por adulto (o preço varia de acordo com o tamanho do grupo)
