PDF) Identification of de novo EP300 and PLAU variants in a
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Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities
Mutations truncating the EP300 acetylase in human cancers
Genes, Free Full-Text
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
KAT3-dependent acetylation of cell type-specific genes maintains neuronal identity in the adult mouse brain
Application of de Novo Sequencing to Large-Scale Complex Proteomics Data Sets
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