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Now showing items 11-20 of 66
Article
FRAXA screening in brazilian institutionalized individuals with nonspecific severe mental retardation
| Date Issued:
2000 | Copyright:
restricted access
Article
Chromosome 6q deletion: report of a new case and review of the literature
| Date Issued:
1998 | Copyright:
open access
Article
Early infantile form of galactosialidosis in a female baby with a prenatal diagnosis of fetal ascites - first case in Brazil
| Date Issued:
1998 | Copyright:
open access
Article
Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report
| Date Issued:
2012 | Copyright:
open access
Article
Sirenomelia associada a defeitos congênitos raros: relato de três casos
| Date Issued:
2012 | Copyright:
open 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