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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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
Rubinstein–Taybi syndrome type 2: report of nine new cases that extend the phenotypic and genotypic spectrum
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
Genes, Free Full-Text
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
Divergent variant patterns among 19 patients with Rubinstein‐Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing - Enomoto - 2022 - Clinical Genetics - Wiley Online Library
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
PDF) Rubinstein-Taybi syndrome in diverse populations
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
Examples of exon array comparative genomic hybridization data from four
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
PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
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
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
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
Genes, Free Full-Text
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
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients
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
PDF) Expanding the mutational spectrum in Johanson‐Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation‐dependent probe amplification analysis
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
Rubinstein-Taybi Syndrome - GeneReviews® - NCBI Bookshelf
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
PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
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