1. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. Issue 4 (22nd January 2015) Authors: Corbett, Mark A; Dudding-Byth, Tracy; Crock, Patricia A; Botta, Elena; Christie, Louise M; Nardo, Tiziana; Caligiuri, Giuseppina; Hobson, Lynne; Boyle, Jackie; Mansour, Albert; Friend, Kathryn L; Crawford, Jo; Jackson, Graeme; Vandeleur, Lucianne; Hackett, Anna; Tarpey, Patrick; Stratton, Michael... Journal: Journal of medical genetics Issue: Volume 52:Issue 4(2015) Page Start: 269 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. An event excess observed in the deeply bound region of the 12C (K−, p) missing-mass spectrum. (11th September 2020) Authors: Ichikawa, Yudai; Yamagata-Sekihara, Junko; Ahn, Jung Keun; Akazawa, Yuya; Aoki, Kanae; Botta, Elena; Ekawa, Hiroyuki; Evtoukhovitch, Petr; Feliciello, Alessandro; Fujita, Manami; Gogami, Toshiyuki; Hasegawa, Shoichi; Hasegawa, Tomoyuki; Hayakawa, Shuhei; Hayakawa, Tomonori; Hirenzaki, Satoru; Hon... Journal: Progress of theoretical and experimental physics Issue: Volume 2020:Number 12(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An event excess observed in the deeply bound region of the 12C (K−, p) missing-mass spectrum. (18th December 2020) Authors: Ichikawa, Yudai; Yamagata-Sekihara, Junko; Ahn, Jung Keun; Akazawa, Yuya; Aoki, Kanae; Botta, Elena; Ekawa, Hiroyuki; Evtoukhovitch, Petr; Feliciello, Alessandro; Fujita, Manami; Gogami, Toshiyuki; Hasegawa, Shoichi; Hasegawa, Tomoyuki; Hayakawa, Shuhei; Hayakawa, Tomonori; Hirenzaki, Satoru; Hon... Journal: Progress of theoretical and experimental physics Issue: Volume 2020:Number 12(2020) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Expansion of the clinical and molecular spectrum of an XPD‐related disorder linked to biallelic mutations in ERCC2 gene. Issue 6 (5th April 2021) Authors: Agolini, Emanuele; Botta, Elena; Lodi, Mariachiara; Digilio, Maria Cristina; Rinelli, Martina; Bellacchio, Emanuele; Alesi, Viola; Nardo, Tiziana; Zambruno, Giovanna; Orioli, Donata; Alessi, Iside; Boccuto, Luigi; Rossi, Sabrina; Carai, Andrea; Colafati, Giovanna Stefania; Cacchione, Antonella; D... Journal: Clinical genetics Issue: Volume 99:Issue 6(2021) Page Start: 842 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome. Issue 5 (23rd March 2018) Authors: Calmels, Nadege; Botta, Elena; Jia, Nan; Fawcett, Heather; Nardo, Tiziana; Nakazawa, Yuka; Lanzafame, Manuela; Moriwaki, Shinichi; Sugita, Katsuo; Kubota, Masaya; Obringer, Cathy; Spitz, Marie-Aude; Stefanini, Miria; Laugel, Vincent; Orioli, Donata; Ogi, Tomoo; Lehmann, Alan Robert Journal: Journal of medical genetics Issue: Volume 55:Issue 5(2018) Page Start: 329 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Heterogeneity and overlaps in nucleotide excision repair disorders. Issue 1 (22nd April 2019) Authors: Ferri, Debora; Orioli, Donata; Botta, Elena Journal: Clinical genetics Issue: Volume 97:Issue 1(2020) Page Start: 12 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy. Issue 18 (28th April 2021) Authors: Botta, Elena; Theil, Arjan F; Raams, Anja; Caligiuri, Giuseppina; Giachetti, Sarah; Bione, Silvia; Accadia, Maria; Lombardi, Anita; Smith, Desiree E C; Mendes, Marisa I; Swagemakers, Sigrid M A; van der Spek, Peter J; Salomons, Gajja S; Hoeijmakers, Jan H J; Yesodharan, Dhanya; Nampoothiri, Sheel... Journal: Human molecular genetics Issue: Volume 30:Issue 18(2021) Page Start: 1711 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Reference genes for gene expression analysis in proliferating and differentiating human keratinocytes. Issue 4 (April 2015) Authors: Lanzafame, Manuela; Botta, Elena; Teson, Massimo; Fortugno, Paola; Zambruno, Giovanna; Stefanini, Miria; Orioli, Donata Journal: Experimental dermatology Issue: Volume 24:Issue 4(2015:Apr.) Page Start: 314 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. TFIIH stabilization recovers the DNA repair and transcription dysfunctions in thermo‐sensitive trichothiodystrophy. Issue 12 (2nd November 2022) Authors: Lanzafame, Manuela; Nardo, Tiziana; Ricotti, Roberta; Pantaleoni, Chiara; D'Arrigo, Stefano; Stanzial, Franco; Benedicenti, Francesco; Thomas, Mary A.; Stefanini, Miria; Orioli, Donata; Botta, Elena Journal: Human mutation Issue: Volume 43:Issue 12(2022) Page Start: 2222 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗