Search Results - "Ribeiro, E.M."
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Mucolipidosis II and III alpha/beta in Brazil: Analysis of the GNPTAB gene
Published in Gene (15-07-2013)“…Mucolipidosis II and III (MLII and MLIII) alpha/beta are rare autosomal recessive lysosomal storage diseases (LSDs) caused by pathogenic variations in the…”
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2
Biliary Atresia: Typical and Atypical Ultrasonographic Findings
Published in Ultrasound in medicine & biology (01-05-2013)Get full text
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Patterns of DNA copy number changes in sentinel lymph node breast cancer metastases
Published in Cytogenetic and genome research (01-01-2008)“…The sentinel lymph node (SLN) is considered to be the first axillary node that contains malignant cells in metastatic breast tumors, and its positivity is…”
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Starch gelatinization implications for nutrient digestibility and fermentation products in the faeces of Beagle dogs
Published in Animal feed science and technology (01-03-2024)“…A combination of raw material particle size and extrusion parameters promotes starch gelatinization (SG). However, the extent of processing, represented by the…”
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Genetic analysis of osteogenesis imperfecta in a large Brazilian cohort
Published in Bone (New York, N.Y.) (01-04-2023)“…Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous disorder caused by disruption of type I collagen synthesis. Previous Brazilian…”
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Comprehensive germline mutation analysis and clinical profile in a large cohort of Brazilian xeroderma pigmentosum patients
Published in Journal of the European Academy of Dermatology and Venereology (01-10-2020)“…Background Xeroderma pigmentosum (XP) patients present a high risk of developing skin cancer and other complications at an early age. This disease is…”
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7
Atresia De Vias Biliares: Achados Ultrassonográficos Tipicos E Atípicos
Published in Ultrasound in medicine & biology (01-05-2013)Get full text
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Infective capacity of arbuscular mycorrhizal fungi in reforested areas after bauxite mining in the Para State, Brazil
Published in Pesquisa agropecuaria brasileira (01-08-2003)Get full text
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