Results
|
1.
|
|
|
2.
|
|
|
3.
|
|
|
4.
|
|
|
5.
|
|
|
6.
|
|
|
7.
|
|
|
8.
|
|
|
9.
|
Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations. [electronic resource] by
- Trevisson, Eva
- Burlina, Alberto
- Doimo, Mara
- Pertegato, Vanessa
- Casarin, Alberto
- Cesaro, Luca
- Navas, Placido
- Basso, Giuseppe
- Sartori, Geppo
- Salviati, Leonardo
Producer: 20091124
In:
The Journal of biological chemistry vol. 284
Availability: No items available.
|
|
10.
|
COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2. [electronic resource] by
- Cerqua, Cristina
- Morbidoni, Valeria
- Desbats, Maria Andrea
- Doimo, Mara
- Frasson, Chiara
- Sacconi, Sabrina
- Baldoin, Maria Cristina
- Sartori, Geppo
- Basso, Giuseppe
- Salviati, Leonardo
- Trevisson, Eva
Producer: 20180625
In:
Biochimica et biophysica acta. Bioenergetics vol. 1859
Availability: No items available.
|
|
11.
|
Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina. [electronic resource] by
- Doimo, Mara
- Desbats, Maria Andrea
- Baldoin, Maria Cristina
- Lenzini, Elisabetta
- Basso, Giuseppe
- Murphy, Elaine
- Graziano, Claudio
- Seri, Marco
- Burlina, Alberto
- Sartori, Geppo
- Trevisson, Eva
- Salviati, Leonardo
Producer: 20130701
In:
Human mutation vol. 34
Availability: No items available.
|
|
12.
|
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function. [electronic resource] by
- Vazquez Fonseca, Luis
- Doimo, Mara
- Calderan, Cristina
- Desbats, Maria Andrea
- Acosta, Manuel J
- Cerqua, Cristina
- Cassina, Matteo
- Ashraf, Shazia
- Hildebrandt, Friedhelm
- Sartori, Geppo
- Navas, Placido
- Trevisson, Eva
- Salviati, Leonardo
Producer: 20190328
In:
Human mutation vol. 39
Availability: No items available.
|
|
13.
|
High-Conductance Channel Formation in Yeast Mitochondria is Mediated by F-ATP Synthase e and g Subunits. [electronic resource] by
- Carraro, Michela
- Checchetto, Vanessa
- Sartori, Geppo
- Kucharczyk, Roza
- di Rago, Jean-Paul
- Minervini, Giovanni
- Franchin, Cinzia
- Arrigoni, Giorgio
- Giorgio, Valentina
- Petronilli, Valeria
- Tosatto, Silvio C E
- Lippe, Giovanna
- Szabó, Ildikó
- Bernardi, Paolo
Producer: 20181126
In:
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology vol. 50
Availability: No items available.
|
|
14.
|
MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome. [electronic resource] by
- Vetro, Annalisa
- Savasta, Salvatore
- Russo Raucci, Annalisa
- Cerqua, Cristina
- Sartori, Geppo
- Limongelli, Ivan
- Forlino, Antonella
- Maruelli, Silvia
- Perucca, Paola
- Vergani, Debora
- Mazzini, Giuliano
- Mattevi, Andrea
- Stivala, Lucia Anna
- Salviati, Leonardo
- Zuffardi, Orsetta
Producer: 20170428
In:
European journal of human genetics : EJHG vol. 25
Availability: No items available.
|
|
15.
|
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. [electronic resource] by
- Salviati, Leonardo
- Trevisson, Eva
- Rodriguez Hernandez, Maria Angeles
- Casarin, Alberto
- Pertegato, Vanessa
- Doimo, Mara
- Cassina, Matteo
- Agosto, Caterina
- Desbats, Maria Andrea
- Sartori, Geppo
- Sacconi, Sabrina
- Memo, Luigi
- Zuffardi, Orsetta
- Artuch, Rafael
- Quinzii, Catarina
- Dimauro, Salvatore
- Hirano, Michio
- Santos-Ocaña, Carlos
- Navas, Plácido
Producer: 20120611
In:
Journal of medical genetics vol. 49
Availability: No items available.
|
|
16.
|
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. [electronic resource] by
- Cassandrini, Denise
- Cilio, Maria Roberta
- Bianchi, Marzia
- Doimo, Mara
- Balestri, Martina
- Tessa, Alessandra
- Rizza, Teresa
- Sartori, Geppo
- Meschini, Maria Chiara
- Nesti, Claudia
- Tozzi, Giulia
- Petruzzella, Vittoria
- Piemonte, Fiorella
- Bisceglia, Luigi
- Bruno, Claudio
- Dionisi-Vici, Carlo
- D'Amico, Adele
- Fattori, Fabiana
- Carrozzo, Rosalba
- Salviati, Leonardo
- Santorelli, Filippo M
- Bertini, Enrico
Producer: 20130924
In:
Journal of inherited metabolic disease vol. 36
Availability: No items available.
|