Francipane, Liliana

PRODUCCION CIENTÍFICO TECNOLÓGICA

Mostrando ítems 1-11 de 11

Evento A series of unfortunate events: familial case of DMD, two different mutational events and skewed X chromosome inactivation in a pregnant woman

Luce, Leonela Natalia ; Carcione, María Micaela ; Mazzanti, Chiara; Szijan, Irena ; Menazzi, Sebastián; Francipane, Liliana; Nevado, Julián; Lapunzina, Pablo; Rossetti, Liliana Carmen ; Radic, Claudia Pamela ; Abelleyro, Miguel Martin ; de Brasi, Carlos Daniel ; Giliberto, Florencia - Otros responsables: Oldfors, A. - (Elsevier Inc, 2019)
Evento Algorithm for molecular diagnosis of the Neurofibromatosis NF1, NF2 and NF3 (Schwannomatosis)

Luce, Leonela Natalia ; Parma, Diana Lidia; Giliberto, Florencia ; Francipane, Liliana; Ciavarelli, Patricia; Szijan, Irena ; Ferrer, Marcela (Fundación Revista Medicina, 2017)
Artículo Analysis of complex structural variants in the DMD gene in one family

Luce, Leonela Natalia ; Abelleyro, Miguel Martin ; Carcione, María Micaela ; Mazzanti, Chiara; Rossetti, Liliana Carmen ; Radic, Claudia Pamela ; Szijan, Irene; Menazzi, Sebastian; Francipane, Liliana; Nevado, Julian; Lapunzina, Pablo; de Brasi, Carlos Daniel ; Giliberto, Florencia (Pergamon-Elsevier Science Ltd, 2021-03)
Artículo Asymptomatic Becker muscular dystrophy in a family with a multiexon deletion

Ferreiro, Verónica; Giliberto, Florencia; Muñiz García, María Noelia ; Francipane, Liliana; Marzese, Diego Matías ; Mampel, Alejandra; Roqué, María; Frechtel, Gustavo Daniel ; Szijan, Irena (John Wiley & Sons Inc, 2009-02)
Artículo Bases moleculares de alfa-talasemia en la Argentina

Scheps, Karen ; Francipane, Liliana; Nash, Abigail; Cerrone, Gloria Edith; Copelli, Silvia Beatriz; Varela, Viviana (Medicina (Buenos Aires), 2015-04)
Evento Dystrophinopathy patients with non-contiguous molecular alterations: Diagnosis and characterization of the genetic mechanisms involved

Luce, Leonela Natalia ; Carcione, María Micaela ; Mazzanti, Chiara; Szijan, Irena ; Menazzi, Sebastian; Francipane, Liliana; Nevado, Julian; Lapunzina, Pablo; Rossetti, Liliana Carmen ; Radic, Claudia Pamela ; Abelleyro, Miguel Martin ; de Brasi, Carlos Daniel ; Giliberto, Florencia (Nature Publishing Group, 2020)
Evento Genetic Variant Curation in GJB2 and GJB6 genes from an Argentinean cohort of hearing loss patients

Buonfiglio, Paula Inés ; Bruque, Carlos David ; Menazzi, Sebastian; Francipane, Liliana; Lotersztein, Vanesa; Elgoyhen, Ana Belen ; Dalamon, Viviana Karina (Nature, 2022)
Artículo GJB2 and GJB6 genes: Molecular study and identification of novel GJB2 mutations in the hearing-impaired argentinean population

Dalamon, Viviana Karina ; Lotersztein, Vanesa; Béhèran, Agustina; Lipovsek, Maria Marcela ; Diamante, Fernando; Pallares, Norma; Francipane, Liliana; Frechtel, Gustavo Daniel ; Paoli, Bibiana; Mansilla, Enrique; Diamante, Vicente; Elgoyhen, Ana Belen (Karger, 2010-03)
Artículo Mitochondrial DNA variants in a cohort from Argentina with suspected Leber’s hereditary optic neuropathy (LHON)

Buonfiglio, Paula Inés ; Menazzi, Sebastián; Francipane, Liliana; Lotersztein, Vanesa; Ferreiro, Verónica; Elgoyhen, Ana Belen ; Dalamon, Viviana Karina (Public Library of Science, 2023-02)
Evento Pathogenicity prediction for novel genetic variants related to hearing loss in a cohort of patients from Argentina

Buonfiglio, Paula Inés ; Bruque, Carlos David ; Lotersztein, Vanesa; Menazzi, Sebastián; Francipane, Liliana; Paoli, Bibiana Patricia; Elgoyhen, Ana Belen ; Dalamon, Viviana Karina (Nature Publishing Group, 2022)
Artículo Predicting pathogenicity for novel hearing loss mutations based on genetic and protein structure approaches

Buonfiglio, Paula Inés ; Bruque, Carlos David ; Lotersztein, Vanesa; Luce, Leonela Natalia ; Giliberto, Florencia ; Menazzi, Sebastián; Francipane, Liliana; Paoli, Bibiana Patricia; Goldschmidt, Ernesto; Elgoyhen, Ana Belen ; Dalamon, Viviana Karina (Nature, 2022-12)

Mostrando ítems 1-11 de 11