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
Por um escritor misterioso
Last updated 06 julho 2024
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
Rubinstein-Taybi syndrome: Multisystem involvement and its clinical
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
Liverpool Pathology 2023. 14th Joint Meeting of the BDIAP and The Pathological Society, 27–29 June 2023 - 2023 - The Journal of Pathology - Wiley Online Library
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
Malformations of Cortical Development
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
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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