PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome: Deletions associated with polysplenia, hypoplastic left heart and death in infancy
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Last updated 30 março 2025


Rubinstein–Taybi syndrome: clinical and molecular overview

Rubinstein–Taybi syndrome: clinical and molecular overview

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome

From Whole Gene Deletion to Point Mutations of EP300‐Positive

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract

Rubinstein-Taybi Syndrome: spectrum of CREBBP mutations in Italian

PDF) Patent ductus arteriousus device closure in an infant with

Molecular studies in 10 cases of Rubinstein-Taybi syndrome

Two adults with Rubinstein–Taybi syndrome with mild mental

PDF) FISH studies in 45 patients with Rubinstein-Taybi syndrome

High frequency of copy number imbalances in Rubinstein–Taybi

Epigenetic mechanisms of Rubinstein-Taybi syndrome. - Abstract

Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in
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