1. A complementary chemical probe approach towards customized studies of G-quadruplex DNA structures in live cells. Issue 8 (7th February 2022) Authors: Prasad, Bagineni; Doimo, Mara; Andréasson, Måns; L'Hôte, Valentin; Chorell, Erik; Wanrooij, Sjoerd Journal: Chemical science Issue: Volume 13:Issue 8(2022) Page Start: 2347 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A two-nuclease pathway involving RNase H1 is required for primer removal at human mitochondrial OriL. Issue 18 (8th August 2018) Authors: Al-Behadili, Ali; Uhler, Jay P; Berglund, Anna-Karin; Peter, Bradley; Doimo, Mara; Reyes, Aurelio; Wanrooij, Sjoerd; Zeviani, Massimo; Falkenberg, Maria Journal: Nucleic acids research Issue: Volume 46:Issue 18(2018) Page Start: 9471 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A unique arginine cluster in PolDIP2 enhances nucleotide binding and DNA synthesis by PrimPol. Issue 4 (3rd February 2021) Authors: Kasho, Kazutoshi; Stojkovič, Gorazd; Velázquez-Ruiz, Cristina; Martínez-Jiménez, Maria Isabel; Doimo, Mara; Laurent, Timothée; Berner, Andreas; Pérez-Rivera, Aldo E; Jenninger, Louise; Blanco, Luis; Wanrooij, Sjoerd Journal: Nucleic acids research Issue: Volume 49:Issue 4(2021) Page Start: 2179 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina. Issue 1 (17th October 2012) Authors: 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 Journal: Human mutation Issue: Volume 34:Issue 1(2013:Jan.) Page Start: 229 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency. Issue 1 (5th August 2014) Authors: Desbats, Maria Andrea; Lunardi, Giada; Doimo, Mara; Trevisson, Eva; Salviati, Leonardo Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 1(2015) Page Start: 145 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. Issue 3 (24th February 2012) Authors: 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, Salvat... Journal: Journal of medical genetics Issue: Volume 49:Issue 3(2012) Page Start: 187 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function. Issue 3 (18th December 2017) Authors: 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 Journal: Human mutation Issue: Volume 39:Issue 3(2018) Page Start: 406 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients. Issue 1 (8th May 2012) Authors: 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'... Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 1(2013) Page Start: 43 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗