Casarubinstein síndrome

Identification of de novo EP300 and PLAU variants in a patient

Por um escritor misterioso
Last updated 23 fevereiro 2025
Identification of de novo EP300 and PLAU variants in a patient
Identification of de novo EP300 and PLAU variants in a patient
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
Identification of de novo EP300 and PLAU variants in a patient
Biomolecules, Free Full-Text
Identification of de novo EP300 and PLAU variants in a patient
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Identification of de novo EP300 and PLAU variants in a patient
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Identification of de novo EP300 and PLAU variants in a patient
Identification of novel nutrient-sensitive gene regulatory networks in amniotic fluid from fetuses with spina bifida using miRNA and transcription factor network analysis
Identification of de novo EP300 and PLAU variants in a patient
CREBBP/EP300 mutations promoted tumor progression in diffuse large B-cell lymphoma through altering tumor-associated macrophage polarization via FBXW7-NOTCH-CCL2/CSF1 axis
Identification of de novo EP300 and PLAU variants in a patient
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Identification of de novo EP300 and PLAU variants in a patient
Six years' accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures
Identification of de novo EP300 and PLAU variants in a patient
Identification of USP9X as a leukemia susceptibility gene - ScienceDirect
Identification of de novo EP300 and PLAU variants in a patient
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Identification of de novo EP300 and PLAU variants in a patient
Overview of sequence variants in CDH patients. (A) Number of validated
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