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  • × Rubinstein-Taybi syndrome
 全选  【符合条件的数据共：15条】

1 iPSC-derived neurons of CREBBP- and EP300-mutated Rubinstein-Taybi syndrome patients show morphological alterations and hypoexcitability - ScienceDirect [期刊论文]

来源：Stem Cell Research , 2018

作者:Valentina Alari

关键词:Rubinstein-Taybi syndrome;Cognitive impairment;...

使用许可:Unknown

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2 First case report of inherited Rubinstein-Taybi syndrome associated with a novel EP300 variant [期刊论文]

来源：BMC Medical Genetics , 2016

作者:Verónica Seidel;María López;Paula Santibáñez;等

关键词:Rubinstein-Taybi syndrome;RSTS;...

使用许可:CC BY

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3 Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome [期刊论文]

来源：Molecular Syndromology , 2015

作者:Koji Masuda;Kazuhiro Akiyama;Yuki Katou;等

关键词:Coloboma;EP300 mutation;...

使用许可:Unknown

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4 Rubinstein-Taybi syndrome: Dental manifestations and management [期刊论文]

来源：South African Journal of Child Health , 2014

作者:Karen Fieggen;M Chetty;Tina Sharon Roberts;等

关键词:Rubinstein-Taybi syndrome;craniofacial;...

使用许可:Unknown

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5 Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome [期刊论文]

来源：Brazilian Journal of Medical and Biological Research , 2010

作者:L.c. Torres;S.m.m. Sugayama;C. Arslanian;等

关键词:Rubinstein-Taybi syndrome;High IgM levels;...

使用许可:CC BY

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6 Evaluation of the immune humoral response of Brazilian patients with Rubinstein-Taybi syndrome [期刊论文]

来源：Brazilian Journal of Medical and Biological Research , 2010

作者:L.c. Torres;S.m.m. Sugayama;C. Arslanian;等

关键词:Rubinstein-Taybi syndrome;High IgM levels;...

使用许可:CC BY

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