Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

Diagnostically relevant facial gestalt information from ordinary photos. - Abstract - Europe PMC

Kabuki Syndrome-Clinical Review with Molecular Aspects. - Abstract - Europe PMC

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico. - Abstract - Europe PMC

Rubinstein-Taybi Syndrome - an overview

Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome. - Abstract - Europe PMC

Genetic Disorder: Most Up-to-Date Encyclopedia, News & Reviews

CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder. - Abstract - Europe PMC

Ptosis in childhood: A clinical sign of several disorders: Case series reports and literature review. - Abstract - Europe PMC

Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. - Abstract - Europe PMC

PDF) Rubinstein-Taybi syndrome with agenesis of corpus callosum

Diagnostically relevant facial gestalt information from ordinary photos. - Abstract - Europe PMC