CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library
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Confirmation of EP300 gene mutations as a rare cause of Rubinstein–Taybi syndrome
PDF) First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant
Chapters Archive - Page 38 of 44 - Endotext
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
Mutation spectrum of CREBBP and EP300 in RSTS individuals referenced in
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations - Van‐Gils - 2019 - Clinical Genetics - Wiley Online Library
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
Rubinstein-Taybi Syndrome and Epigenetic Alterations
Rubinstein-Taybi Syndrome and Epigenetic Alterations
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
CREBBP mutations in individuals without Rubinstein–Taybi syndrome phenotype - Menke - 2016 - American Journal of Medical Genetics Part A - Wiley Online Library
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