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
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PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
Molecular insight into CREBBP and TANGO2 variants causing intellectual disability - Hussain - The Journal of Gene Medicine - Wiley Online Library
Percentage of exon array CGH results classified according to mode of
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Molecular insight into CREBBP and TANGO2 variants causing intellectual disability - Hussain - The Journal of Gene Medicine - Wiley Online Library
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
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Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients
Minimum size distribution of deletions and duplications identified by
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