Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Ermelinda, Mazzucco"'
Autor:
Marianna De Cinque, Orazio Palumbo, Ermelinda Mazzucco, Antonella Simone, Pietro Palumbo, Renata Ciavatta, Giuliana Maria, Rosangela Ferese, Stefano Gambardella, Antonella Angiolillo, Massimo Carella, Silvio Garofalo
Publikováno v:
Frontiers in Genetics, Vol 8 (2017)
Terminal deletion of chromosome 6q is a rare chromosomal abnormality associated with variable phenotype spectrum. Although intellectual disability, facial dysmorphism, seizures and brain abnormalities are typical features of this syndrome, genotype
Externí odkaz:
https://doaj.org/article/d39e9feb7ec644a4b77b98a10f2f2854
Autor:
Bisceglia, Luigi *, Cerullo, Giuseppina *, Forabosco, Paola, Torres, Diletta Domenica, Scolari, Francesco, Di Perna, Michele, Foramitti, Marina, Amoroso, Antonio, Bertok, Sara, Floege, Jürgen, Mertens, Peter Rene, Zerres, Klaus, Alexopoulos, Efstathios, Kirmizis, Dimitrios, Ermelinda, Mazzucco, Zelante, Leopoldo, Schena, Francesco Paolo *
Publikováno v:
In The American Journal of Human Genetics December 2006 79(6):1130-1134