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

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Last updated 11 novembro 2024
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
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
IJMS, Free Full-Text
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Rubinstein–Taybi syndrome - Wikipedia
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
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Opposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma - ScienceDirect
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
PDF) Rubinstein-Taybi syndrome in diverse populations
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
High frequency of copy number imbalances in Rubinstein–Taybi patients negative to CREBBP mutational analysis
Ultra-Rare Syndromes: The Example of Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 1
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