Ferrer, Marcela Maria

PRODUCCION CIENTÍFICO TECNOLÓGICA

Mostrando ítems 1-8 de 8

Artículo MLPA analysis of an Argentine cohort of patients with dystrophinopathy: Association of intron breakpoints hot spots with STR abundance in DMD gene

Luce, Leonela Natalia; Dalamon, Viviana Karina ; Ferrer, Marcela Maria ; Parma, Diana Lidia; Szijan, Irena ; Giliberto, Florencia (Elsevier Science, 2016-06)
Artículo Molecular diagnosis of dystrophinopathies using a multi-technique analisis algorithm

Luce, Leonela N.; Ottaviani, Daniela; Ferrer, Marcela Maria ; Szijan, Irena ; Cotignola, Javier Hernan ; Giliberto, Florencia (Wiley, 2013-06-26)
Artículo Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations

Ottaviani, Daniela; Parma, Diana Lidia; Ferrer, Marcela Maria ; Giliberto, Florencia; Luce, Leonela Natalia; Alonso, Cristina; Szijan, Irena (SciTechnol, 2015-02)
Artículo Prognostic value of mutations in isocitrate dehydrogenase 1 (IDH1) and reverse telomerase transcriptase (TERT) in Argentine patients` gliomas

Funes, Pedro Tomas; Moggia, Daniela; Parma, Diana Lidia; Ferrer, Marcela Maria ; Giliberto, Florencia ; Szijan, Irena (Pontificia Universidad Católica de Chile, 2021-03-22)
Artículo RB1 gene mutations in Argentine retinoblastoma patients. Implications for genetic counseling

Parma, Diana Lidia; Ferrer, Marcela Maria ; Luce, Leonela Natalia ; Giliberto, Florencia; Szijan, Irene (Public Library of Science, 2017-12)
Artículo Small mutation screening in the DMD gene by whole exome sequencing of an Argentine Duchenne/Becker muscular dystrophies cohort

Luce, Leonela Natalia ; Carcione, María Micaela; Mazzanti, Chiara; Ferrer, Marcela Maria ; Szijan, Irene; Giliberto, Florencia (Pergamon-Elsevier Science Ltd, 2018-12)
Artículo Spectrum of RB1 mutations in Argentine patients: 20-years experience in the molecular diagnosis of retinoblastoma

Ottaviani, Daniela; Parma, Diana Lidia; Giliberto, Florencia; Ferrer, Marcela Maria ; Fandino, Adriana; Davila, María Teresa; Chantada, Guillermo Luis ; Szijan, Irena (Taylor & Francis, 2013-01)
Evento Whole Exome Sequencing analysis of constitutional DNA in argentinean Retinoblastoma patients

Parma, Diana Lidia; Luce, Leonela Natalia ; Carcione, María Micaela ; Mazzanti, Chiara; Ferrer, Marcela Maria ; Giliberto, Florencia ; Szijan, Irena (Fundación Revista Medicina, 2019)

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