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Now showing items 1-10 of 66
Article
A newborn screening pilot study using methylation-sensitive high resolution melting on dried blood spots to detect Prader-Willi and Angelman syndromes
| Date Issued:
2020 | Copyright:
open access
Article
Molecular analysis of 23 exons of the cftr gene in brazilian patients leads to the finding of rare cystic fibrosis mutations
| Date Issued:
2005 | Copyright:
open access
Article
Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21
| Date Issued:
2009 | Copyright:
restricted access
Article
Cholelithiasis and biliary sludge in Down's syndrome patients
| Date Issued:
2007 | Copyright:
restricted access
Article
Polymorphic markers suggest a gene flow of cftr gene from sub-saharan/arabian and mediterranean to brazilian population
| Date Issued:
2006 | Copyright:
restricted access
Article
Avaliação genética itinerante de crianças e adolescentes com deficiência vinculadas à Estratégia Saúde da Família
| Date Issued:
2013 | Copyright:
open access
Article
Atenção em genética médica no SUS: a experiência de um município de médio porte
| Date Issued:
2013 | Copyright:
open access
Article
Enzyme replacement therapy with galsulfase in 34 children younger than five years of age with MPS VI
| Date Issued:
2013 | Copyright:
restricted access