PDF) Identification of de novo EP300 and PLAU variants in a
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Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome
Genes, Free Full-Text
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Histone acetyltransferases CBP/p300 in tumorigenesis and CBP/p300 inhibitors as promising novel anticancer agents
PDF) Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients
Epigenetic regulation in hematopoiesis and its implications in the targeted therapy of hematologic malignancies
Biomedicines, Free Full-Text
Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome - ScienceDirect
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
PDF) De novo damaging variants associated with congenital heart diseases contribute to the connectome
A novel de novo MTOR gain-of-function variant in a patient with Smith-Kingsmore syndrome and Antiphospholipid syndrome
PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
PDF) Persons with Quebec platelet disorder have a tandem duplication of PLAU, the urokinase plasminogen activator gene
CREBBP/EP300 mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-associated macrophage polarization via FBXW7-NOTCH-CCL2/CSF1 axis
Exploration of Coding and Non-coding Variants in Cancer Using GenomePaint - ScienceDirect
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