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Now showing items 31-40 of 66
Article
Identificação dos conceitos de medidas de desfechos de ensaios clínicos em osteogênese imperfeita utilizando a classificação internacional de funcionalidade, incapacidade e saúde - versão crianças e jovens
| Date Issued:
2014 | Copyright:
open access
Article
A epistemologia narrativa e o exercício clínico do diagnóstico
| Date Issued:
2002 | Copyright:
open access
Article
Intrathecal administration of recombinant human N-acetylgalactosamine 4-sulfatase to a MPS VI patient with pachymeningitis cervicalis
| Date Issued:
2010 | Copyright:
restricted access
Article
Molecular analysis of the most prevalent mutations of the FANCA and FANCC genes in Brazilian patients with Fanconi anaemia
| Date Issued:
2005 | Copyright:
restricted access
Article
Molecular analysis of holoprosencephaly in South America
| Date Issued:
2014 | Copyright:
open access
Article
A systematic review and meta-analysis of enzyme replacement therapy in late-onset Pompe disease
| Date Issued:
2021 | Copyright:
open access
Article
Severe phenotype in MPS II patients associated with a large deletion including contiguous genes
| Date Issued:
2012 | Copyright:
restricted access
Article
Respiratory function during enzyme replacement therapy in late-onset Pompe disease: longitudinal course, prognostic factors, and the impact of time from diagnosis to treatment start
| Date Issued:
2020 | Copyright:
restricted access
Article
A rapid and accurate methylation-sensitive high-resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patients
| Date Issued:
2019 | Copyright:
open access