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Now showing items 1-10 of 32
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
FRAXA screening in brazilian institutionalized individuals with nonspecific severe mental retardation
| Date Issued:
2000 | Copyright:
restricted access
Article
Bax expression and apoptotic cell death in Fanconi anaemia peripheral blood lymphocytes
| Date Issued:
2007 | Copyright:
restricted access
Article
Five Haplotypes Account for Fifty-Five Percent of ATM Mutations in Brazilian Patients With Ataxia Telangiectasia: Seven New Mutations
| Date Issued:
2004 | Copyright:
restricted access
Article
Síndrome do X frágil: estudo caso-controle envolvendo pacientes pré e pós-puberais com diagnóstico confirmado por análise molecular
| Date Issued:
2001 | Copyright:
restricted access
Article
Investigação do retardo mental e doenças genéticas a partir de um estudo transversal em escolas do Estado do Rio de Janeiro
| Date Issued:
2000 | Copyright:
restricted access
Article
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations
| Date Issued:
2009 | Copyright:
restricted access