Lotersztein, Vanesa

PRODUCCION CIENTÍFICO TECNOLÓGICA

Mostrando ítems 1-12 de 12

Evento Comprehensive analysis of genetic variants identified by Whole Exome Sequencing in hearing impaired patients in Argentina

Buonfiglio, Paula Inés ; Bruque, Carlos Darío; Lotersztein, Vanesa; Goldschmidt, Ezequiel Darío; Plazas, Paola Viviana ; Dalamon, Viviana Karina ; Elgoyhen, Ana Belen - Otros responsables: Carrillo, Maria Cristina Trevani, Analía Silvina Larocca, Maria Cecilia - (Fundación Revista Medicina, 2020)
Evento Comprehensive molecular-genetic analysis of a hearing loss cohort from Argentina: Functional validation of novel variants identified

Buonfiglio, Paula Inés ; Lotersztein, Vanesa; Menazzi, Sabastián; Plazas, Paola Viviana ; Elgoyhen, Ana Belen ; Dalamon, Viviana Karina (Fundación Revista Medicina, 2022)
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)
Evento GJB2 and GJB6 genetic variant curation in a non-syndromic hearing loss cohort from argentina

Buonfiglio, Paula Inés ; Bruque, Carlos David ; Menazzi, S.; Francipane, S.; Lotersztein, Vanesa; Elgoyhen, Ana Belen ; Dalamon, Viviana Karina (Fundación Revista Medicina, 2021)
Artículo GJB2 and GJB6 genetic variant curation in an Argentinean non-syndromic hearing-impaired cohort

Buonfiglio, Paula Inés ; Bruque, Carlos David ; Luce, Leonela Natalia ; Giliberto, Florencia ; Lotersztein, Vanesa; Menazzi, Sebastián; Paoli, Bibiana Patricia; Elgoyhen, Ana Belen ; Dalamon, Viviana Karina (MDPI AG, 2020-10-21)
Artículo Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype/phenotype analysis in moderate cases

Dalamon, Viviana Karina ; Wernert, Maria Florencia ; Lotersztein, Vanesa; Craig, Patricio Oliver ; Reynoso, Raúl Alfredo; Barteik, María Eugenia; Curet, Carlos Augusto; Paoli, Bibiana Patricia; Mansilla, Enrique; Elgoyhen, Ana Belen (Springer, 2013-10-25)
Artículo Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system

Espeche, Lucia Daniela; Solari, Andrea Paula; Mori, María Ángeles; Arenas, Rubén Martín; Palomares, María; Pérez, Myriam; Martínez, Cinthia; Lotersztein, Vanesa; Segovia, Mabel; Armando, Romina; Dain, Liliana Beatriz ; Nevado, Julián; Lapunzina, Pablo; Rozental, Sandra (Springer, 2020-09-13)
Evento In silico and in vivo analyses of novel variants identified by Whole Exome Sequencing in Argentinean deaf patients: To be or not be pathogenic

Buonfiglio, Paula Inés ; Bruque, Carlos David ; Goldschmidt, Ernesto; Lotersztein, Vanesa; Menazzi, Sebastián; Paoli, Bibiana; Plazas, Paola Viviana ; Elgoyhen, Ana Belen ; Dalamon, Viviana Karina (Nature Publishing Group, 2020)
Evento Large-scale molecular analysis of hereditary hearing loss genes in argentinean deaf patients: lookingfora needle in a haystack

Buonfiglio, Paula Inés ; Bruque, Carlos David; Lotersztein, Vanesa; Goldschmidt, E.; Elgoyhen, Ana Belen ; Dalamon, Viviana Karina (Springer, 2019)
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 1-12 de 12