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Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience
OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the dis...
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| Publicado no: | Clinics (Sao Paulo) |
|---|---|
| Main Authors: | , , , , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5629705/ https://ncbi.nlm.nih.gov/pubmed/29069255 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.6061/clinics/2017(09)02 |
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