Casarubinstein taybi

Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300

Por um escritor misterioso
Last updated 31 março 2025
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein–Taybi syndrome - Bartsch - 2010 - American Journal of Medical Genetics Part A - Wiley Online Library
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: delineation of the phenotype of the first patients carrying mutations in EP300
Skeletal findings of patients carrying mutations of the EP300 gene
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
PDF] Rubinstein-Taybi Syndrome: A Female Patient with a De Novo Reciprocal Translocation T(2; 16)(Q36.3; P13.3) and Dysgranulopoiesis
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
PDF) Rubinstein-Taybi syndrome: Clinical features, genetic basis, diagnosis, and management
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300
Rubinstein-Taybi Syndrome
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
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