Casarubinstein síndrome

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

Por um escritor misterioso
Last updated 08 julho 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
IJMS, Free Full-Text
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
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
PDF) New mutation of Rubinstein-Taybi Syndrome
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
IJMS, Free Full-Text
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
Distribution of CREBBP domains and mutations in our patient (in green)
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
Frontiers Genetic Predisposition to Solid Pediatric Cancers
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
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
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