Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Martino Landi"'
Autor:
Martino Landi, Caterina Coradeschi, Sara Cecchi, Simona Negro, Giovanni Antonelli, Vitali Pak, Barbara Tomasini
Publikováno v:
Journal of Pediatric and Neonatal Individualized Medicine, Vol 12, Iss 1, Pp e120115-e120115 (2023)
Background: The Gerbode defect is an extremely rare type of congenital cardiac anomaly characterized by direct communication between the left ventricle (LV) and right atrium (RA), leading to a left-to-right shunt. It can be either congenital or acqui
Externí odkaz:
https://doaj.org/article/5c5ce226de6d4242aec2e9ae91361e06
Autor:
Gabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, Mirella Bruttini, Theodora Hadjistilianou, Martino Landi, Caterina Coradeschi, Salvatore Grosso, Barbara Tomasini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/095c04efe42e4eae9a4b3bd5420fe118
Autor:
Gabriella Doddato, Alessandra Fabbiani, Chiara Fallerini, Mirella Bruttini, Theodora Hadjistilianou, Martino Landi, Caterina Coradeschi, Salvatore Grosso, Barbara Tomasini, Maria Antonietta Mencarelli, Alessandra Renieri, Francesca Ariani
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in XYLT2 gene encoding a xylotransferase involved in the biosynthesis of proteoglycans. This condition, with autosomal recessive inheritance, has a high phenotypic var
Externí odkaz:
https://doaj.org/article/f0f0382478784a97b012b7d2f97d62f2