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
Por um escritor misterioso
Descrição
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
Percentage of exon array CGH results classified according to mode of
PDF) Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder
PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome - Choi - 2021 - Molecular Genetics & Genomic Medicine - Wiley Online Library
PDF) Rubinstein-Taybi syndrome in diverse populations
Genes, Free Full-Text
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome, BMC Medical Genomics
Molecular insight into CREBBP and TANGO2 variants causing intellectual disability - Hussain - The Journal of Gene Medicine - Wiley Online Library
Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi Syndrome patients
de
por adulto (o preço varia de acordo com o tamanho do grupo)