Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes
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Descrição
Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
PDF) Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: Two UK patients
Rubinstein-Taybi syndrome - Atlas of Human Malformation Syndromes in Diverse Populations
PDF) Rubinstein-Taybi syndrome in diverse populations
Glaucoma and Findings Simulating Glaucoma in the Rubinstein-Taybi Syndrome
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Facial features and limb anomalies of all the patients: a Facial
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
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