PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum
Por um escritor misterioso
Descrição
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder
Frontiers Genetic Diagnosis of Rubinstein–Taybi Syndrome With Multiplex Ligation-Dependent Probe Amplification (MLPA) and Whole-Exome Sequencing (WES): Case Series With a Novel CREBBP Variant
Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability. - Abstract - Europe PMC
Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease - ScienceDirect
Genes, Free Full-Text
Rubinstein-Taybi Syndrome - an overview
PDF) New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐ positive patients
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum
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
IJMS, Free Full-Text
de
por adulto (o preço varia de acordo com o tamanho do grupo)
