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Repositório Científico do Instituto Nacional de Saúde >
Departamento de Genética Humana >

DGH - Artigos em revistas internacionais : [131]

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Recent Submissions

Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples

Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands

Measurements of CFTR-Mediated Cl- Secretion in Human Rectal Biopsies Constitute a Robust Biomarker for Cystic Fibrosis Diagnosis and Prognosis

BAG-1 stabilizes mutant F508del-CFTR in a Ubiquitin-Like-Domain-Dependent Manner

Tuberculosis diagnosis after bleach processing for early stage tuberculosis laboratory capacity building

 

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