High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Por um escritor misterioso
Last updated 24 fevereiro 2025
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Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation - ScienceDirect
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Individual functions of the histone acetyl transferases CBP and p300 in regulating the inflammatory response of synovial fibroblasts - ScienceDirect
Full article: Follicular lymphoma, a B cell malignancy addicted to epigenetic mutations
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Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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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
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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
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PDF) New dysmorphic features in Rubinstein-Taybi syndrome
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PDF) Rubinstein-Taybi syndrome in diverse populations
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Microdeletions and mutations of CREBBP (CBP) gene can cause
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Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect
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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
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PDF) Nephrotic syndrome in a case of Rubinstein Taybi syndrome: a rare case report