Molecular studies in 10 cases of Rubinstein-Taybi syndrome

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Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
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Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Clinical photos of the patients. (a) Case 1: Dysmorphic facial features
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Expanding the phenotype associated to KMT2A variants: overlapping clinical signs between Wiedemann–Steiner and Rubinstein–Taybi syndromes
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
Molecular studies in 10 cases of Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome
Molecular studies in 10 cases of 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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