PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum

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Last updated 30 outubro 2024
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
PDF) Genetic heterogeneity in Rubinstein-Taybi syndrome: Delineation of the phenotype of the first patients carrying mutations in EP300
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Epigenetics of cognition and behavior: insights from Mendelian disorders of epigenetic machinery, Journal of Neurodevelopmental Disorders
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
PDF) New point mutation in CREBBP Gene cause Rubinstein-Taybi syndrome: A case report
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
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PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations - Fergelot - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
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
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations - Fergelot - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
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

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