Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Por um escritor misterioso
Last updated 17 dezembro 2024
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
Rubinstein-Taybi Syndrome: A Case Report
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia – topic of research paper in Clinical medicine. Download scholarly article PDF
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
Frontiers Behavioral and neuropsychiatric challenges across the lifespan in individuals with Rubinstein-Taybi syndrome
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
Rubinstein‐Taybi syndrome in Chinese population with four novel mutations - Yu - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library
Clinical and Experimental Pediatrics
PDF] Rubinstein-Taybi Syndrome in a 19-years old boy.
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
Psychiatric Profile in Rubinstein-Taybi Syndrome
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