Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Descrição
Genes Topical Collection : Study on Genotypes and Phenotypes of Pediatric Clinical Rare Diseases
Rubinstein–Taybi syndrome in diverse populations - Tekendo‐Ngongang - 2020 - American Journal of Medical Genetics Part A - Wiley Online Library
PDF] Rubinstein-Taybi Syndrome: A Case Report
PDF) De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia
Forgotten Diseases Research Foundation
Rubinstein–Taybi syndrome - Wikipedia
Rubinstein–Taybi syndrome: clinical and molecular overview, Expert Reviews in Molecular Medicine
Dermatologic Manifestations of Rubinstein-Taybi Syndrome: Background, Pathophysiology, Etiology
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Dermatologic Manifestations of Rubinstein-Taybi Syndrome: Background, Pathophysiology, Etiology
Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management, Italian Journal of Pediatrics
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