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://media.springernature.com/m685/springer-static/image/art%3A10.1186%2Fs12881-016-0361-8/MediaObjects/12881_2016_361_Fig1_HTML.gif)
First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant, BMC Medical Genetics
![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/8ef6774b-0058-4028-9b5a-391526910e17/mgg3972-fig-0001-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/lw685/springer-static/image/art%3A10.1186%2Fs12920-022-01335-4/MediaObjects/12920_2022_1335_Fig1_HTML.jpg)
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
![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/2b08d86a-3ed4-40f2-b95e-4f3aa4388155/ajmga61883-fig-0001-m.jpg)
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
![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%2Fs12881-019-0747-5/MediaObjects/12881_2019_747_Fig5_HTML.png)
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report, BMC Medical Genetics
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://pub.mdpi-res.com/genes/genes-12-00968/article_deploy/html/images/genes-12-00968-g006.png?1626846418)
Genes, Free Full-Text
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://i1.rgstatic.net/publication/323587522_Neurological_Manifestations_of_Rubinstein-Taybi_syndrome_A_Case_Report/links/5a9f06b145851543e63431e3/largepreview.png)
PDF) Neurological Manifestations of Rubinstein-Taybi syndrome: A Case Report
![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_Fig3_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
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fs41467-022-34476-2/MediaObjects/41467_2022_34476_Fig5_HTML.png)
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://www.biorxiv.org/content/biorxiv/early/2022/08/09/2022.06.15.496287/F2.large.jpg)
CITED2 is a Conserved Regulator of the Uterine-Placental Interface
![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/6ee1c79e-b17e-41ec-a00b-de5e1099cd27/ajmga37940-fig-0002-m.jpg)
Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations - Fergelot - 2016 - 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://onlinelibrary.wiley.com/cms/asset/43e743ba-6716-4e80-bae3-818830c5e568/ajmg.a.v182.12.cover.jpg?trick=1692708073161)
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
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://i1.rgstatic.net/publication/343853554_A_Novel_CREBBP_in-Frame_Deletion_Variant_in_a_Chinese_Girl_with_Atypical_Rubinstein-Taybi_Syndrome_Phenotypes/links/5fc1d488458515b7977c38d1/largepreview.png)
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
![PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome](https://media.springernature.com/lw685/springer-static/image/art%3A10.1038%2Fs41467-022-34476-2/MediaObjects/41467_2022_34476_Fig3_HTML.png)
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
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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