PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
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![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://onlinelibrary.wiley.com/cms/asset/3441471c-58d7-4f74-aabc-085b2d836df1/ajmga38603-fig-0002-m.jpg)
Benign and malignant tumors in Rubinstein–Taybi syndrome - Boot - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://europepmc.org/articles/PMC6863608/bin/nihms-1056974-f0001.jpg)
Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://onlinelibrary.wiley.com/cms/asset/c5d7dea1-848e-4b28-9475-24fafff19e8c/mgg3972-fig-0002-m.jpg)
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients - Pérez‐Grijalba - 2019 - Molecular Genetics & Genomic Medicine - Wiley Online Library
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://media.springernature.com/full/springer-static/image/art%3A10.1038%2Fejhg.2010.1/MediaObjects/41431_2010_Article_BFejhg20101_Fig1_HTML.jpg)
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://media.springernature.com/m685/springer-static/image/art%3A10.1038%2Fejhg.2010.121/MediaObjects/41431_2011_Article_BFejhg2010121_Fig2_HTML.jpg)
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein –Taybi syndrome detected by aCGH
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://www.researchgate.net/publication/282791147/figure/tbl1/AS:669350927298570@1536597105361/Clinical-data_Q320.jpg)
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://static.cambridge.org/binary/version/id/urn:cambridge.org:id:binary-alt:20160627193127-09055-mediumThumb-S1462399407000415_fig4g.jpg?pub-status=live)
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://onlinelibrary.wiley.com/cms/asset/2d56bc37-e4bb-4142-b729-4a0a47fc78f5/mgg3177-fig-0001-m.jpg)
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
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://jmg.bmj.com/content/jmedgenet/39/6/415/F1.large.jpg)
Molecular analysis of the CBP gene in 60 patients with Rubinstein-Taybi syndrome
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://ars.els-cdn.com/content/image/1-s2.0-S0002929707628699-gr2.jpg)
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12920-023-01516-9/MediaObjects/12920_2023_1516_Fig1_HTML.png)
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
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