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Now showing items 21-30 of 68
Article
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations
| Date Issued:
2009 | Copyright:
restricted access
Letter
Further report of a patient with humeroradioulnar synostosis and hydronephrosis
| Date Issued:
2013 | Copyright:
restricted access
Article
Epilepsy and ring chromosome 20: case report
| Date Issued:
2002 | Copyright:
restricted access
Article
FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11; 13)(p13; q33) translocation detect a microdeletion involving the WAGR region
| Date Issued:
2000 | Copyright:
restricted access
Article
Instabilidade atlanto-axial na síndrome de Down: o que o radiologista precisa conhecer
| Date Issued:
2006 | Copyright:
restricted access
Article
Aspectos clínicos em 16 pacientes com diagnóstico tomográfico de esquizencefalia
| Date Issued:
2006 | Copyright:
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Article
Investigação clínica e genética em meninas com baixa estatura idiopática
| Date Issued:
2003 | Copyright:
restricted access
Article
Prenatal exposure to misoprostol and vascular disruption defects: a case-control study
| Date Issued:
2000 | Copyright:
open access
Article
Apoptosis and expression of anti- andpro-apoptotic proteins in peripheral blood mononuclear cells of Fanconi anaemia patients: a study of 73 cases
| Date Issued:
2005 | Copyright:
restricted access
Article
Novel and Recurrent Mutations in the FGFR3 Gene and Double Heterozygosity Cases in a Cohort of Brazilian Patients with Skeletal Dysplasia
| Date Issued:
2018 | Copyright:
restricted access