Évelin Aline Zanardo

Intragenic variants in the <i>SMN1</i> gene determine the clinical phenotype in 5q spinal muscular atrophy

Rodrigo de Holanda Mendonça, Ciro Matsui, Graziela Jorge Polido et al. · Neurology Genetics · 2020 · 42 citations · Full text

Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia

Marcela Cavalcante de Andrade Silva, Ana Cristina Victorino Krepischi, Leslie Domenici Kulikowski et al. · Cancer Genetics · 2018 · 24 citations · Full text

Hematological Malignancy, Runx1 Exons 1, Hematology +5

Williams-Beuren Syndrome: A Clinical Study of 55 Brazilian Patients and the Diagnostic Use of MLPA

Rachel Sayuri Honjo, Roberta Lelis Dutra, Érika Arai Furusawa et al. · BioMed Research International · 2015 · 23 citations · Full text

Genetics, Genetic Epidemiology, Diagnosis +20

Investigation of copy number variation in children with conotruncal heart defects

Carla Marques Rondon Campos, Évelin Aline Zanardo, Roberta Lelis Dutra et al. · Arquivos Brasileiros de Cardiologia · 2014 · 22 citations · Full text

Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome

Évelin Aline Zanardo, Flávia Piazzon, Roberta Lelis Dutra et al. · Molecular Genetics and Genomics · 2014 · 19 citations

Developmental Anomaly, Chromatin, Chromosome Dynamics +12