Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect
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EP300 is a member of the EP300/CBP family of lysine acetyltransferases (KATs) with multiple roles in development and physiology. Loss of EP300/CBP act…
Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum, BMC Medical Genetics
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
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
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
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect
Congenital and postnatal microcephalies - ScienceDirect
Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish - ScienceDirect
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy - ScienceDirect
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
An epigenetic framework for neurodevelopmental disorders: From pathogenesis to potential therapy - ScienceDirect
PDF) Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish
PDF) Chemical and genetic rescue of an ep300 knockdown model for Rubinstein Taybi Syndrome in zebrafish
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
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