Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Por um escritor misterioso
Last updated 15 maio 2024
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly - Yu - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Long-term results following osteotomy of the thumb delta phalanx in Rubinstein–Taybi Syndrome - A. Jain, S. Rehman, G. Smith, 2010
Psychiatric Profile in Rubinstein-Taybi Syndrome
Congenital glaucoma as a presenting feature of Rubinstein-Taybi syndrome in an infant with a novel pathogenic variant in the CREBBP gene
A Case of Rubinstein-Taybi Syndrome with Tetralogy of Fallot
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
Rubinstein-Taybi syndrome with agenesis of corpus callosum. - Abstract - Europe PMC
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
PDF) A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency
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