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rubinstein taybi syndrome

High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis

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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
PDF) Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: Two UK patients
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Individual functions of the histone acetyl transferases CBP and p300 in regulating the inflammatory response of synovial fibroblasts - ScienceDirect
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
PDF) New dysmorphic features in Rubinstein-Taybi syndrome
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization, BMC Genomics
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Genes, Free Full-Text
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
The clinical context of copy number variation in the human genome, Expert Reviews in Molecular Medicine
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Identification of 22q11.2 deletion in a patient with schizophrenia and clinically diagnosed Rubinstein–Taybi syndrome - Nagai - 2022 - Psychiatry and Clinical Neurosciences Reports - Wiley Online Library
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
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