Search
Now showing items 41-50 of 68
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
Article
DNA extraction from fixed cytogenetic cell suspensions
| Date Issued:
2007 | Copyright:
open access
Article
Mucopolysaccharidosis I, II, and VI brief review and guidelines for treatment
| Date Issued:
2010 | Copyright:
open access
Article
Terapia de reposição enzimática para as mucopolissacaridoses I, II e VI: recomendações de um grupo de especialistas brasileiros
| Date Issued:
2010 | Copyright:
open access
Article
Educação e saúde: um diálogo necessário às políticas de atenção integral para pessoas com deficiência
| Date Issued:
2012 | Copyright:
open access
Article
Deletion (1)(p32.2–p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: a new microdeletion syndrome?
| Date Issued:
2008 | Copyright:
restricted access
Article
Análise estratégica de um centro de genética médica em um instituto de pesquisa nacional em saúde no Brasil: desafios para o SUS
| Date Issued:
2021 | Copyright:
open access
Article
Adolescentes com osteogênese imperfeita - qualidade de vida
| Date Issued:
2014 | Copyright:
open access
Article
Microdeletion and microduplication syndromes
| Date Issued:
2012 | Copyright:
restricted access