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Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome

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Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Rubinstein–Taybi Syndrome in a Filipino Infant with a Novel CREBBP Gene Pathogenic Variant
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Full article: Psychomotor, cognitive, and socio-emotional developmental profiles of children with Rubinstein-Taybi Syndrome and a severe intellectual disability
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
PDF] Rubinstein-Taybi Syndrome: A Case Report
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
PDF] Rubinstein-Taybi Syndrome: A Case Report
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Dermatologic Manifestations of Rubinstein-Taybi Syndrome: Background, Pathophysiology, Etiology
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome, Orphanet Journal of Rare Diseases
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Ultrasound 2-D and 3-D diagnosis of Rubinstein–Taybi syndrome in a 21-week-old fetus
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Role of the ADCY9 gene in cardiac abnormalities of the Rubinstein-Taybi syndrome, Orphanet Journal of Rare Diseases
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