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GenIO: A phenotype-genotype analysis web server for clinical genomics of rare diseases
(BioMed Central, 2018-01)
Background: GenIO is a novel web-server, designed to assist clinical genomics researchers and medical doctors in the diagnostic process of rare genetic diseases. The tool identifies the most probable variants causing a ...
COMDORA-SBN recommendations for patients with rare kidney diseases in relation to the Covid-19 pandemic
(Sociedade Brasileira de Nefrologia, 2020-08-26)
During the Covid-19 pandemic, the issue is how to maintain adequate care for people with other diseases. In this document, the SBN Rare Diseases Committee (COMDORA) gives some guidelines on the care of patients with rare ...
Barriers and Considerations for Diagnosing Rare Diseases in Indigenous Populations
(2020-12)
Advances in omics and specifically genomic technologies are increasingly transforming rare disease diagnosis. However, the benefits of these advances are disproportionately experienced within and between populations, with ...
Pulmonary artery sarcoma: a rare disease
(2010)
Pulmonary artery sarcomas (PAS) are rare and probably incurable tumours. The clinical manifestations are non-specific and very similar to that of patients with thromboembolic disease, resulting in delay of the correct ...
Vulnerabilidade à cárie dentária em indivíduos diagnosticados com doenças genéticas raras
(Universidade Federal de Minas GeraisUFMG, 2018-07-05)
Rare diseases are all diseases that affect up to 65 people out of every 100,000 inhabitants. There is a great diversity of signs and symptoms present in the affected individuals, which vary according to the etiology of the ...
Indivíduos com doenças genéticas raras que afetam o desenvolvimento esquelético: vulnerabilidade aos problemas bucais
(Universidade Federal de Minas GeraisBrasilFAO - FACULDADE DE ODONTOLOGIAPrograma de Pós-Graduação em OdontologiaUFMG, 2021-07-20)
Rare diseases have a wide variability of signs and symptoms. Mucopolysaccharidoses (MPS) and Osteogenesis Imperfecta (OI) are rare genetic diseases that affect skeletal development. The individuals can present craniofacial ...