CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome - Wincent - 2016 - Molecular Genetics & Genomic Medicine - Wiley Online Library
Por um escritor misterioso
Descrição
Rubinstein-Taybi Syndrome - an overview
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
Rubinstein-Taybi Syndrome and Epigenetic Alterations
PDF) Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability
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
Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein–Taybi syndrome - Menke - 2018 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
A Novel CREBBP in-Frame Deletion Variant in a Chinese Girl with Atypical Rubinstein–Taybi Syndrome Phenotypes
Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian patients, BMC Medical Genetics
PDF) CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein–Taybi syndrome
Rubinstein-Taybi Syndrome and Epigenetic Alterations
Chapters Archive - Page 38 of 44 - Endotext
PDF) Clinical description and mutational profile of a Moroccan series of patients with Rubinstein Taybi syndrome
de
por adulto (o preço varia de acordo com o tamanho do grupo)