Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™
Por um escritor misterioso
Last updated 05 julho 2024
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CBP/EP300 acetylates and stabilizes the stress-responsive Heat
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IJMS, Free Full-Text
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Rubinstein-Taybi syndrome in a Saudi boy with distinct features and
![Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™](https://jmg.bmj.com/content/jmedgenet/44/5/327/F2.large.jpg)
Genetic heterogeneity in Rubinstein–Taybi syndrome: delineation of
![Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™](https://onlinelibrary.wiley.com/cms/asset/1e14f96d-b018-49bd-9289-035655527dbd/mgg31009-fig-0002-m.jpg)
Clinical exome sequencing identifies novel CREBBP variants in 18
![Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™](https://www.frontiersin.org/files/Articles/640992/fgene-12-640992-HTML/image_m/fgene-12-640992-g001.jpg)
Frontiers Case Report: Low-Level Maternal Mosaicism of a Novel
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Mosaic CREBBP mutation causes overlapping clinical features of
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PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome
![Rubinstein-Taybi Syndrome OMIM# 180849 - FDNA™](https://ars.els-cdn.com/content/image/1-s2.0-S0378111913000437-gr2.jpg)
Germline mosaicism in Rubinstein–Taybi syndrome - ScienceDirect
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IJMS, Free Full-Text
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PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome
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