PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum

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Last updated 11 novembro 2024
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
De novo variation in EP300 gene cause Rubinstein-Taybi syndrome 2 in a Chinese family with severe early-onset high myopia, BMC Medical Genomics
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the clinical and genetic spectrum
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Mosaic CREBBP mutation causes overlapping clinical features of Rubinstein– Taybi and Filippi syndromes
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Characterization of 14 novel deletions underlying Rubinstein–Taybi syndrome: an update of the CREBBP deletion repertoire
PDF) Rubinstein-Taybi 2 associated to novel EP300 mutations: Deepening the  clinical and genetic spectrum
Identification of de novo EP300 and PLAU variants in a patient with Rubinstein–Taybi syndrome-related arterial vasculopathy and skeletal anomaly

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