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Now showing items 51-60 of 68
Article
Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, x-inactivation analysis and imaging evaluations
| Date Issued:
2010 | Copyright:
restricted access
Article
Molecular analysis of holoprosencephaly in South America
| Date Issued:
2014 | Copyright:
open access
Article
Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy
| Date Issued:
2009 | Copyright:
open access
Article
Revisitando o desvendamento da etiologia da síndrome de turner
| Date Issued:
2009 | Copyright:
open access
Article
Doença de hirschsprung: experiência com uma série de 55 casos
| Date Issued:
2009 | Copyright:
open access
Article
Fumaric aciduria: an overview and the first brazilian case report
| Date Issued:
2010 | Copyright:
restricted access
Article
Short stature, brachydactyly, and Peters' anomaly (Peters'-plus syndrome): confirmation of autosomal recessive inheritance
| Date Issued:
1991 | Copyright:
open access
Article
Spinal cord compression in young children with type VI mucopolysaccharidosis
| Date Issued:
2011 | Copyright:
restricted access
Article
Defeitos congênitos no Município do Rio de Janeiro, Brasil: uma avaliação através do SINASC (2000-2004)
| Date Issued:
2008 | Copyright:
open access
Article
Confiabilidade das informações das declarações de nascido vivo com registro de defeitos congênitos no município do Rio de Janeiro, Brasil, 2004
| Date Issued:
2008 | Copyright:
open access