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Doenças Lisossomais de Sobrecarga: Perspetiva Geral e Novas Abordagens de Diagnóstico Molecular por Next Generation Sequecing

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apresentação dia das doenças raras.pdf1.98 MBAdobe PDF Download

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Rare genetic diseases, the diagnosis is difficult due to considerable clinical overlap and clinical variability. Usually multiple samples and tests are often required before a diagnosis is reached.

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Doenças Lisossomais de Sobrecarga: Diagnóstico Molecular Next Generation Sequecing Doenças Genéticas Genética Humana

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