The behavioral phenotype of Rubinstein–Taybi syndrome: A scoping review of the literature - Awan - 2022 - American Journal of Medical Genetics Part A - Wiley Online Library
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Last updated 31 janeiro 2025
A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
Rubinstein‐Taybi syndrome medical guidelines - Wiley - 2003 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF] The behavioural and cognitive phenotype of 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
Rubinstein–Taybi syndrome European Journal of Human Genetics
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
Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
Rubinstein Taybi Syndrome: Most Up-to-Date Encyclopedia, News & Reviews
Rubinstein-Taybi syndrome: Multisystem involvement and its clinical
IJMS, Free Full-Text
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
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