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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
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Protein Lysine Acetylation by p300/CBP
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
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
Genes, Free Full-Text
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Otopalatodigital Syndrome, Type Ii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Microdeletions and mutations of CREBBP (CBP) gene can cause
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
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
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
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