Rubinstein–Taybi syndrome in diverse populations - Tekendo

RT-PCR and bioinformatic analysis of the splice site mutation

Comparison of the features of patients with EP300 mutations

PDF) Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: A case report

Genes, Free Full-Text

Profile of the microarray analysis showing the deleted region as

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome - Sheppard - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library

Facial features and limb anomalies of all the patients: a Facial

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. - Abstract - Europe PMC

Summary of deletion results. (a) Large deletions. A schematic

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy

PDF) Turner syndrome in diverse populations

Cornelia de Lange Syndrome: insights into neural development from clinical studies and animal models - ScienceDirect

Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. - Abstract - Europe PMC