Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Francesca Niccheri"'
Autor:
Sergio Daga, Francesco Donati, Katia Capitani, Susanna Croci, Rossella Tita, Annarita Giliberti, Floriana Valentino, Elisa Benetti, Chiara Fallerini, Francesca Niccheri, Margherita Baldassarri, Maria Antonietta Mencarelli, Elisa Frullanti, Simone Furini, Silvestro Giovanni Conticello, Alessandra Renieri, Anna Maria Pinto
Publikováno v:
European Journal of Human Genetics.
Autor:
Sergio Daga, Vittoria Lamacchia, Caterina Lo Rizzo, Francesco Donati, Francesca Niccheri, Filomena Tiziana Papa, Diego Lopergolo, Susanna Croci, Elisa Benetti, Miriam Lucia Carriero, Elisa Frullanti, Rossella Tita, Ilaria Meloni, Alessandra Renieri, Simone Furini, Katia Capitani, Silvestro G. Conticello, Annarita Giliberti
Publikováno v:
European Journal of Human Genetics
Variations in the Forkhead Box G1 (FOXG1) gene cause FOXG1 syndrome spectrum, including the congenital variant of Rett syndrome, characterized by early onset of regression, Rett-like and jerky movements, and cortical visual impairment. Due to the lar
Autor:
Margherita Baldassarri, Sergio Daga, Francesco Donati, Chiara Fallerini, Susanna Croci, Alessandra Renieri, Simone Furini, Maria Antonietta Mencarelli, Silvestro G. Conticello, Rossella Tita, Annarita Giliberti, Anna Maria Pinto, Katia Capitani, Elisa Frullanti, Francesca Niccheri, Floriana Valentino, Elisa Benetti
Publikováno v:
European Journal of Human Genetics
Alport syndrome (AS) is an inherited genetic disorder characterized by range of alterations from glomerular basement membrane abnormalities up to end-stage renal disease. Pathogenic variants in the collagen α3, α4, and α5 encoding genes are causat
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1692c78e8e1197023784a9114f6fbe3
http://hdl.handle.net/11365/1113136
http://hdl.handle.net/11365/1113136
Publikováno v:
Cellular and Molecular Life Sciences
Clustered Regularly Interspaced Short Palindromic Repeats-associated protein 9 nuclease (CRISPR/Cas9) and Transcription Activator-Like Effector Nucleases (TALENs) are versatile tools for genome editing. Here we report a method to increase the frequen
Autor:
Francesca, Niccheri, Feliciana, Real-Fernàndez, Matteo, Ramazzotti, Francesco, Lolli, Giada, Rossi, Paolo, Rovero, Donatella, Degl'Innocenti
Publikováno v:
Journal of molecular recognition : JMR. 27(10)
Multiple sclerosis (MS) is a chronic auto-immune disease characterized by a damage to the myelin component of the central nervous system. Self-antigens created by aberrant glycosylation have been described to be a key component in the formation of au