Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Por um escritor misterioso
Last updated 03 novembro 2024
Expert Review of Molecular Diagnostics
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
Rubinstein–Taybi syndrome European Journal of Human Genetics
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
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
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Rubinstein-Taybi Syndrome: A Case Report
PDF) Rubinstein-Taybi syndrome: A case report
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