Molecular studies in 10 cases of Rubinstein-Taybi syndrome
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Rubinstein-Taybi Syndrome

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Clinical photos of the patients. (a) Case 1: Dysmorphic facial features

Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect

Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant

Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes

Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Rubinstein-Taybi Syndrome

Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations
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