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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
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
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High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
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
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Identification of a novel de novo mutation of CREBBP in a patient with Rubinstein-Taybi syndrome by targeted next-generation sequencing: a case report - ScienceDirect
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy
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
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Next generation sequencing identified two novel mutations in NIPBL and a frame shift mutation in CREBBP in three Chinese children, Orphanet Journal of Rare Diseases
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
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
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report
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