1. A new case of SMABF2 diagnosed in stillbirth expands the prenatal presentation and mutational spectrum of ASCC1. Issue 3 (27th December 2019) Authors: Giuffrida, Maria G.; Mastromoro, Gioia; Guida, Valentina; Truglio, Mauro; Fabbretti, Maria; Torres, Barbara; Mazza, Tommaso; De Luca, Alessandro; Roggini, Mario; Bernardini, Laura; Pizzuti, Antonio Journal: American journal of medical genetics Issue: Volume 182:Issue 3(2020) Page Start: 508 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical and molecular characterization of a boy with intellectual disability, facial dysmorphism, minor digital anomalies and a complex IL1RAPL1 intragenic rearrangement. (November 2016) Authors: Laino, Luigi; Bottillo, Irene; Piedimonte, Caterina; Bernardini, Laura; Torres, Barbara; Grammatico, Barbara; Bargiacchi, Simone; Mulargia, Claudia; Calvani, Mauro; Cardona, Francesco; Castori, Marco; Grammatico, Paola Journal: European journal of paediatric neurology Issue: Volume 20:Number 6(2016:Nov.) Page Start: 971 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Delineation of MidXq28‐duplication syndrome distal to MECP2 and proximal to RAB39B genes. Issue 3 (17th June 2019) Authors: Sinibaldi, Lorenzo; Parisi, Valentina; Lanciotti, Silvia; Fontana, Paolo; Kuechler, Alma; Baujat, Genevieve; Torres, Barbara; Koetting, Judith; Splendiani, Alessandra; Postorivo, Diana; Beygo, Jasmin; Garaci, Francesco G.; Malan, Valerie; Lüdecke, Hermann‐Josef; Guida, Valentina; Krumbiegel, Mand... Journal: Clinical genetics Issue: Volume 96:Issue 3(2019) Page Start: 246 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Inside Back Cover, Volume 41, Issue 1. Issue 1 (24th December 2019) Authors: Hijazi, Hadia; Coelho, Fernanda S.; Gonzaga‐Jauregui, Claudia; Bernardini, Laura; Mar, Soe S.; Manning, Melanie A.; Hanson‐Kahn, Andrea; Naidu, SakkuBai; Srivastava, Siddharth; Lee, Jennifer A.; Jones, Julie R.; Friez, Michael J.; Alberico, Thomas; Torres, Barbara; Fang, Ping; Cheung, Sau Wai; So... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: ii Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Koolen‐de Vries syndrome in a 63‐year‐old woman: Report of the oldest patient and a review of the adult phenotype. Issue 2 (19th October 2021) Authors: Farnè, Marianna; Bernardini, Laura; Capalbo, Anna; Cavarretta, Giusy; Torres, Barbara; Sanchini, Mariabeatrice; Fini, Sergio; Ferlini, Alessandra; Bigoni, Stefania Journal: American journal of medical genetics Issue: Volume 188:Issue 2(2022) Page Start: 692 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Mosaic genome‐wide paternal uniparental disomy after discordant results from primary fetal samples and cultured cells. Issue 4 (4th January 2023) Authors: Mastromoro, Gioia; Guadagnolo, Daniele; Marchionni, Enrica; Torres, Barbara; Goldoni, Marina; Onori, Annamaria; Bernardini, Laura; De Luca, Alessandro; Torrente, Isabella; Pizzuti, Antonio Journal: American journal of medical genetics Issue: Volume 191:Issue 4(2023) Page Start: 1101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Multimodality Treatment of Pediatric and Adult Patients With Ewing Sarcoma. Issue 5 (July 2015) Authors: Diaz-Beveridge, Robert; Lorente, David; Torres, Barbara; Cañete, Adela; Rodrigo, Esteban; Bruixola, Gema; Berlanga, Pablo; Reche, Encarnacion; Montalar, Joaquin; Verdeguer, Amparo; Aparicio, Jorge Journal: Journal of pediatric hematology/oncology Issue: Volume 37:Issue 5(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Multimodality Treatment of Pediatric and Adult Patients With Ewing Sarcoma: A Single-institution Experience. Issue 5 (July 2015) Authors: Diaz-Beveridge, Robert; Lorente, David; Torres, Barbara; Cañete, Adela; Rodrigo, Esteban; Bruixola, Gema; Berlanga, Pablo; Reche, Encarnacion; Montalar, Joaquin; Verdeguer, Amparo; Aparicio, Jorge Journal: Journal of pediatric hematology/oncology Issue: Volume 37:Issue 5(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Prenatal CFAP53-related laterality defect: case report and review of the literature. (31st December 2023) Authors: Mastromoro, Gioia; Guadagnolo, Daniele; Novelli, Antonio; Torres, Barbara; Piane, Maria; Magliozzi, Monia; Bernardini, Laura; Ventriglia, Flavia; Pizzuti, Antonio; Petrucci, Simona Journal: Journal of maternal-fetal & neonatal medicine Issue: Volume 36:Number 1(2023) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation. Issue 1 (22nd November 2019) Authors: Traversa, Alice; Bernardo, Silvia; Paiardini, Alessandro; Giovannetti, Agnese; Marchionni, Enrica; Genovesi, Maria Luce; Guadagnolo, Daniele; Torres, Barbara; Paolacci, Stefano; Bernardini, Laura; Mazza, Tommaso; Carella, Massimo; Caputo, Viviana; Pizzuti, Antonio Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 1(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗