Casarubinstein síndrome

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

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Last updated 10 novembro 2024
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
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
PDF) New dysmorphic features in Rubinstein-Taybi syndrome
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
Frontiers Genetic Predisposition to Solid Pediatric Cancers
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
PDF) New mutation of Rubinstein-Taybi Syndrome
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
PDF) Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
IJMS, Free Full-Text
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
Oligonucleotide Microarray Analysis of Genomic Imbalance in Children with Mental Retardation - ScienceDirect
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: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach - Ajmone - 2018 - American Journal of Medical Genetics Part B: Neuropsychiatric Genetics - Wiley Online Library
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
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