Casarubinstein síndrome

Identification of de novo EP300 and PLAU variants in a patient

Por um escritor misterioso
Last updated 14 janeiro 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 variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
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
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
De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders
Identification of de novo EP300 and PLAU variants in a patient
Case report: a Chinese girl like atypical Rubinstein–Taybi syndrome caused by a novel heterozygous mutation of the EP300 gene, BMC Medical Genomics
Identification of de novo EP300 and PLAU variants in a patient
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
Identification of de novo EP300 and PLAU variants in a patient
Base-pair level characterization of clinically-identified de novo
Identification of de novo EP300 and PLAU variants in a patient
Genes, Free Full-Text
Identification of de novo EP300 and PLAU variants in a patient
Rbfox2 undergoes changes in HLHS patient hearts.: (a) The effect of de
Identification of de novo EP300 and PLAU variants in a patient
Mutations truncating the EP300 acetylase in human cancers
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
Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
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
Variant recurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants - ScienceDirect
Identification of de novo EP300 and PLAU variants in a patient
Comparative Analysis of Drug-like EP300/CREBBP Acetyltransferase Inhibitors
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