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Marília M. Montenegro

University of São Paulo

23

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54

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Investigação Citogenômica de Crianças com Doença Cardíaca Congênita: Experiência de um Centro no Brasil

2021 Arquivos Brasileiros De Cardiologia
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Efficacy of MLPA for detection of Y-chromosome microdeletions in infertile Brazilian patients.

2020 Journal of Assisted Reproduction and Genetics
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Lymphoproliferative disorder with polyautoimmunity and hypogammaglobulinemia: An unusual presentation of 22q11.2 deletion syndrome.

2020 Clinical Immunology
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Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases

2020 Molecular Genetics & Genomic Medicine
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Application of whole exome sequencing in detecting copy number variants in patients with developmental delay and/or multiple congenital malformations

2020 The Journal of Molecular Diagnostics
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Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines

2019 Cytogenetic and Genome Research
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Investigating the CNVs in routine diagnostics using WES and array in Brazilian patients

2019
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Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

2019 Molecular Genetics & Genomic Medicine
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Multi-gene panel testing improves diagnosis in Brazilian patients with Early-Onset Epilepsy

2019
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Molecular autopsy reveals clues for genetic basis of congenital valve defect

2019
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