Showing 1 - 15 results of 15 for search 'SARAIVA-PEREIRA,Maria Luiza', query time: 0.08s Refine Results
  1. 1
    Molecular Analysis of Spinal Muscular Atrophy: a genotyping protocol based on TaqMan® real-time PCR
    Digital revista
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  2. 2
    Diagnostic contribution of molecular analysis of the cystic fibrosis transmembrane conductance regulator gene in patients suspected of having mild or atypical cystic fibrosis
    Digital revista
    SCIELO


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  3. 3
    An effective device for generating alginate microcapsules
    Digital revista
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  4. 4
    State biomarkers for Machado Joseph disease: Validation, feasibility and responsiveness to change
    Digital revista
    SCIELO


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  5. 5
    A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22): an illustrative case in the investigation of patients with low ARSA activity
    Digital revista
    SCIELO


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  6. 6
    Responsividade à tetrahidrobiopterina em pacientes com deficiência de fenilalanina hidroxilase
    Digital revista
    SCIELO


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  7. 7
    Brain-derived neurotrophic factor gene val66met polymorphism and executive functioning in patients with bipolar disorder
    Digital revista
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  8. 8
    Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders
    Digital revista
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  9. 9
    Cross-cultural adaptation and validation of the International Cooperative Ataxia Rating Scale (ICARS) to Brazilian Portuguese
    Digital revista
    SCIELO


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  10. 10
    GSTM1, GSTT1, and GSTP1 polymorphisms, breast cancer risk factors and mammographic density in women submitted to breast cancer screening
    Digital revista
    SCIELO


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  11. 11
    Niemann-Pick disease type C: a case series of Brazilian patients
    Digital revista
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  12. 12
    Free carnitine and branched chain amino acids are not good biomarkers in Huntington’s disease
    Digital revista
    SCIELO


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  13. 13
    Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome
    Digital revista
    SCIELO


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  14. 14
    Minimal prevalence of Huntington’s disease in the South of Brazil and instability of the expanded CAG tract during intergenerational transmissions
    Digital revista
    SCIELO


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  15. 15
    Population medical genetics: translating science to the community
    Digital revista
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