First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant – topic of research paper in Clinical medicine. Download scholarly article PDF and read for free on CyberLeninka open

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Last updated 09 novembro 2024
First case report of inherited Rubinstein-Taybi syndrome associated with a  novel EP300 variant – topic of research paper in Clinical medicine.  Download scholarly article PDF and read for free on CyberLeninka open
First case report of inherited Rubinstein-Taybi syndrome associated with a  novel EP300 variant – topic of research paper in Clinical medicine.  Download scholarly article PDF and read for free on CyberLeninka open
Novel cAMP binding protein-BP (CREBBP) mutation in a girl with
First case report of inherited Rubinstein-Taybi syndrome associated with a  novel EP300 variant – topic of research paper in Clinical medicine.  Download scholarly article PDF and read for free on CyberLeninka open
PDF) First case report of inherited Rubinstein-Taybi syndrome
First case report of inherited Rubinstein-Taybi syndrome associated with a  novel EP300 variant – topic of research paper in Clinical medicine.  Download scholarly article PDF and read for free on CyberLeninka open
A novel CREBBP mutation and its phenotype in a case of Rubinstein
First case report of inherited Rubinstein-Taybi syndrome associated with a  novel EP300 variant – topic of research paper in Clinical medicine.  Download scholarly article PDF and read for free on CyberLeninka open
Brain size regulations by cbp haploinsufficiency evaluated by in
First case report of inherited Rubinstein-Taybi syndrome associated with a  novel EP300 variant – topic of research paper in Clinical medicine.  Download scholarly article PDF and read for free on CyberLeninka open
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2
First case report of inherited Rubinstein-Taybi syndrome associated with a  novel EP300 variant – topic of research paper in Clinical medicine.  Download scholarly article PDF and read for free on CyberLeninka open
Rubinstein–Taybi syndrome: clinical and molecular overview
First case report of inherited Rubinstein-Taybi syndrome associated with a  novel EP300 variant – topic of research paper in Clinical medicine.  Download scholarly article PDF and read for free on CyberLeninka open
Long-read sequencing to reclassify variants of uncertain
First case report of inherited Rubinstein-Taybi syndrome associated with a  novel EP300 variant – topic of research paper in Clinical medicine.  Download scholarly article PDF and read for free on CyberLeninka open
Clinical exome sequencing identifies novel CREBBP variants in 18
First case report of inherited Rubinstein-Taybi syndrome associated with a  novel EP300 variant – topic of research paper in Clinical medicine.  Download scholarly article PDF and read for free on CyberLeninka open
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with
First case report of inherited Rubinstein-Taybi syndrome associated with a  novel EP300 variant – topic of research paper in Clinical medicine.  Download scholarly article PDF and read for free on CyberLeninka open
Case report: a Chinese girl like atypical Rubinstein–Taybi

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