PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch
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Last updated 07 fevereiro 2025
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![PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch](https://0.academia-photos.com/attachment_thumbnails/39230849/mini_magick20220707-11514-1d2uo9w.png?1657188787)
PDF) Case Report: Rubinstein-Taybi Syndrome
![PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch](https://0.academia-photos.com/attachment_thumbnails/85749540/mini_magick20220522-7636-1ddyj0t.png?1653255561)
PDF) Tentative assignment of a locus for Rubinstein-Taybi syndrome to 16p13.3 by a de novo reciprocal translocation, t(7;16)(q34;p13.3)
![PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch](https://0.academia-photos.com/attachment_thumbnails/66506603/mini_magick20210421-16855-tgq4rj.png?1619067761)
PDF) Coffin-Siris syndrome with café-au-lait spots, obesity and hyperinsulinism caused by a mutation in the ARID1B gene
![PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch](https://www.researchgate.net/profile/Neeti_Sharma/publication/45508569/figure/fig1/AS:277400018538496@1443148726095/figure-fig1_Q320.jpg)
PDF) Spectrum of CREBBP mutations in Indian patients with Rubinstein-Taybi syndrome
![PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch](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
![PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch](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) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch](https://media.springernature.com/w300/springer-static/image/art%3A10.1038%2Fejhg.2010.124/MediaObjects/41431_2011_Article_BFejhg2010124_Figc_HTML.jpg)
Rubinstein–Taybi syndrome (CREBBP, EP300)
![PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch](https://i1.rgstatic.net/publication/249965826_Reply_to_ten_Kate_et_al/links/0c96052bca60ded6f9000000/largepreview.png)
PDF) Reply to ten Kate et al
![PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch](https://0.academia-photos.com/attachment_thumbnails/46869591/mini_magick20190208-27347-hr56z8.png?1549658888)
PDF) Inheritance and variable expression in Rubinstein-Taybi syndrome
![PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch](https://www.researchgate.net/profile/Seong-Hwan-Rho/publication/273918421/figure/tbl1/AS:670320931401752@1536828372892/The-three-de-novo-variants-validated-by-Sanger-Sequencing_Q320.jpg)
PDF) Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation
![PDF) Rubinstein–Taybi syndrome (CREBBP, EP300) Martine van Belzen and Oliver Bartsch](https://i1.rgstatic.net/publication/229063800_Clinical_utility_gene_card_for_Glanzmann_thrombasthenia/links/5712059a08aeebe07c037677/largepreview.png)
PDF) Clinical utility gene card for: Glanzmann thrombasthenia
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