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 16 setembro 2024
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
Rubinstein-Taybi Syndrome: A Complete Overview — DermNet
PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
Genotype-Phenotype Correlations in Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
PDF] The behavioural and cognitive phenotype of Rubinstein-Taybi syndrome
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Malformations of Cortical Development
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
PDF) Differences in the Information Needs of Parents With a Child With a Genetic Syndrome: A Cross‐Syndrome Comparison
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