Carlos Daniel De Brasi

Developing a new generation of tests for genotyping hemophilia‐causative rearrangements involving int22h and int1h hotspots in the factor VIII gene

Liliana Carmen Rossetti, Claudia Pamela Radic, Irene Larripa et al. · Journal of Thrombosis and Haemostasis · 2008 · 129 citations · Full text

Genetics, Pathogenesis, Hematology +5

Genotyping the Hemophilia Inversion Hotspot by Use of Inverse PCR

Liliana Carmen Rossetti, Claudia Pamela Radic, Irene Larripa et al. · Clinical Chemistry · 2005 · 102 citations · Full text

Symptomatic female carriers of Duchenne muscular dystrophy (DMD): Genetic and clinical characterization

Florencia Giliberto, Claudia Pamela Radic, Leonela Luce et al. · Journal of the Neurological Sciences · 2013 · 70 citations · Full text

Rare Diseases, Mendelian Disorder, Genetic Disorder +7

5meCpG Epigenetic Marks Neighboring a Primate-Conserved Core Promoter Short Tandem Repeat Indicate X-Chromosome Inactivation

Filipe Brum Machado, Fabricio Brum Machado, Milena Amendro Faria et al. · PLoS ONE · 2014 · 39 citations · Full text

Chromatin, Transcriptional Regulation, Developmental Biology +14

Homeologous recombination between AluSx-sequences as a cause of hemophilia

Liliana Carmen Rossetti, Anne Goodeve, Irene Larripa et al. · Human Mutation · 2004 · 39 citations

Large Partial Deletion, Genetics, Pathogenesis +12