<i>GJB</i>2 and <i>GJB</i>6 Genetic Variant Curation in an Argentinean Non-Syndromic Hearing-Impaired Cohort

by Paula Buonfiglio, Carlos D. Bruque, Leonela Luce, Florencia Giliberto, Vanesa Lotersztein, Sebastián Menazzi, Bibiana Paoli, Ana Belén Elgoyhen, Viviana Dalamón
Published 2020-10-01

Inflammatory cutaneous lesions and pulmonary manifestations in a new patient with autosomal recessive ISG15 deficiency case report

by Guadalupe Buda, Rita María Valdez, German Biagioli, Federico A. Olivieri, Nicolás Affranchino, Carolina Bouso, Vanesa Lotersztein, Dusan Bogunovic, Jacinta Bustamante, Marcelo A. Martí
Published 2020-09-01