Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
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CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract - Europe PMC
The phenotype‐driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes - Jezela‐Stanek - 2020 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
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A case with Rubinstein-Taybi syndrome: A novel frameshift mutation in the CREBBP gene.
Frontiers Case report: A preterm infant with rubinstein-taybi syndrome and Marmorata telangiectatica harboring a frameshift mutation in the CREBBP gene
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
PDF) Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome
EP300‐related Rubinstein–Taybi syndrome: Highlighted rare phenotypic findings and a genotype–phenotype meta‐analysis of 74 patients - Cohen - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
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