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
Por um escritor misterioso
Last updated 06 julho 2024
![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](https://onlinelibrary.wiley.com/cms/asset/982614de-9a60-4424-9c56-e472b79bce81/mgg3177-toc-0001-m.jpg?trick=1695608563074)
![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](https://atlasgeneticsoncology.org/img/cards_genes/CREBBPFig2.png)
CREBBP (CREB binding protein)
![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](https://media.springernature.com/m685/springer-static/image/art%3A10.1186%2F1471-2350-7-77/MediaObjects/12881_2006_Article_185_Fig7_HTML.jpg)
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
![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](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
![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](https://onlinelibrary.wiley.com/cms/asset/4fc2bf75-c5fa-4ecc-b6a6-38d1eb9f69db/pbc.v63.s3.cover.jpg?trick=1693292243690)
SIOP 2016 Scientific Programme+Index - 2016 - Pediatric Blood & Cancer - Wiley Online Library
![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](https://media.springernature.com/lw685/springer-static/image/chp%3A10.1007%2F978-3-319-53889-1_3/MediaObjects/395392_1_En_3_Fig5_HTML.gif)
Rubinstein-Taybi Syndrome and Epigenetic Alterations
![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](https://media.springernature.com/lw685/springer-static/image/chp%3A10.1007%2F978-3-319-53889-1_3/MediaObjects/395392_1_En_3_Fig1_HTML.gif)
Rubinstein-Taybi Syndrome and Epigenetic Alterations
![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](https://i1.rgstatic.net/ii/profile.image/11431281111018908-1672845484842_Q64/Josue-Rivadeneira.jpg)
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
![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](https://europepmc.org/articles/PMC6863608/bin/nihms-1056974-f0002.jpg)
Rubinstein-Taybi Syndrome and Epigenetic Alterations. - Abstract - Europe PMC
![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](https://0.academia-photos.com/attachment_thumbnails/70018784/mini_magick20210920-13749-1kfv68u.png?1632186653)
PDF) Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
![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](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
![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](https://onlinelibrary.wiley.com/cms/asset/95542c25-af51-44ef-815f-d6efb2caa94a/ajmga38626-fig-0001-m.jpg)
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
Recomendado para você
-
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein- Taybi Syndrome Phenotype: A Case Report of a Saudi Boy. - Document06 julho 2024
-
PDF) Rubinstein-Taybi syndrome medical guidelines06 julho 2024
-
PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch06 julho 2024
-
Subclass IgG levels of patients with Rubinstein-Taybi syndrome compared06 julho 2024
-
IJMS, Free Full-Text06 julho 2024
-
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP06 julho 2024
-
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine06 julho 2024
-
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics06 julho 2024
-
Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP06 julho 2024
-
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of06 julho 2024
você pode gostar
-
Capybara Clicker APK (Android Game) - Baixar Grátis06 julho 2024
-
Pysnake – construindo o “jogo da cobrinha” no terminal06 julho 2024
-
How to get the most out of your Community Server06 julho 2024
-
Spider-Man Exclusive Amazing Fantasy Retro Marvel Legends - Marvel Legends UK06 julho 2024
-
Alemanha vence Costa Rica em partida de muitos gols na abertura da Copa 2006 - Wikinotícias06 julho 2024
-
FIFA 22 terá partidas online entre plataformas diferentes em fase de testes com modos limitados06 julho 2024
-
Jogos de Jogos de Fazenda - Jogos Online Grátis06 julho 2024
-
ESRB rating leaks story details about Assassin's Creed Mirage - Xfire06 julho 2024
-
evil dead rise mother ellie Mask for Sale by Soulfate06 julho 2024
-
Typeform App Integration - Pipedrive Marketplace06 julho 2024