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rubinstein síndrome

Identification of de novo EP300 and PLAU variants in a patient

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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
Genes, Free Full-Text
Identification of de novo EP300 and PLAU variants in a patient
Zebrafish has two co-orthologues of ep300. (a) Phylogenetic tree of
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
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
Frontiers The role of noncoding genetic variants in cardiomyopathy
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
Frontiers Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development
Identification of de novo EP300 and PLAU variants in a patient
Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
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