Rubinstein - Taybi syndrome: phenotypic characteristics
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Descrição
Dysmorphic and skeletal features of Rubinstein‐Taybi syndrome patients.
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
Genes, Free Full-Text
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein-Taybi Syndrome
Facial dysmorphism, skeletal anomalies, congenital glucoma, dysplastic nails: Mild Rubinstein-Taybi Syndrome - ScienceDirect
Facial features of Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome
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
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
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
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