1. Clinical evolution and epilepsy outcome in three patients with CDKL5‐related developmental encephalopathy. Issue 3 (17th July 2019) Authors: Bernardo, Pia; Ferretti, Alessandro; Terrone, Gaetano; Santoro, Claudia; Bravaccio, Carmela; Striano, Salvatore; Coppola, Antonietta; Striano, Pasquale Journal: Epileptic disorders Issue: Volume 21:Issue 3(2019) Page Start: 271 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1. Issue 1 (26th October 2019) Authors: Koczkowska, Magdalena; Callens, Tom; Chen, Yunjia; Gomes, Alicia; Hicks, Alesha D.; Sharp, Angela; Johns, Eric; Uhas, Kim Armfield; Armstrong, Linlea; Bosanko, Katherine Armstrong; Babovic‐Vuksanovic, Dusica; Baker, Laura; Basel, Donald G.; Bengala, Mario; Bennett, James T.; Chambers, Chelsea; Cl... Journal: Human mutation Issue: Volume 41:Issue 1(2020) Page Start: 299 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings. Issue 5 (17th August 2021) Authors: D'Amico, Alessandra; Rosano, Carmen; Pannone, Luca; Pinna, Valentina; Assunto, Antonia; Motta, Marialetizia; Ugga, Lorenzo; Daniele, Paola; Mandile, Roberta; Mariniello, Lucio; Siano, Maria Anna; Santoro, Claudia; Piluso, Giulio; Martinelli, Simone; Strisciuglio, Pietro; De Luca, Alessandro; Tart... Journal: Clinical genetics Issue: Volume 100:Issue 5(2021) Page Start: 563 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. From Gardner fibroma diagnosis to constitutional APC mutation detection: a one‐way street. Issue 10 (10th August 2017) Authors: Santoro, Claudia; Giugliano, Teresa; Bifano, Delfina; D'Anna, Carolina; D'Onofrio, Vittoria; Perrotta, Silverio Journal: Clinical case reports Issue: Volume 5:Issue 10(2017) Page Start: 1557 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome. Issue 1 (4th March 2019) Authors: Bernardo, Pia; Del Gaudio, Luigi; Madia, Francesca; Riccio, Maria Pia; Marino, Maria; Santoro, Claudia; Caccavale, Carmela; Striano, Salvatore; Bravaccio, Carmela; Coppola, Antonietta Journal: Neurocase Issue: Volume 25:Issue 1/2(2019) Page Start: 62 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Moyamoya syndrome in children with neurofibromatosis type 1: Italian–French experience. Issue 6 (19th April 2017) Authors: Santoro, Claudia; Di Rocco, Federico; Kossorotoff, Manoelle; Zerah, Michel; Boddaert, Nathalie; Calmon, Raphael; Vidaud, Dominique; Cirillo, Mario; Cinalli, Giuseppe; Mirone, Giuseppe; Giugliano, Teresa; Piluso, Giulio; D'Amico, Alessandra; Capra, Valeria; Pavanello, Marco; Cama, Armando; Nobili,... Journal: American journal of medical genetics Issue: Volume 173:Issue 6(2017) Page Start: 1521 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. UBE2A deficiency in two siblings: A novel splicing variant inherited from a maternal germline mosaicism. Issue 3 (28th December 2017) Authors: Giugliano, Teresa; Santoro, Claudia; Torella, Annalaura; Del Vecchio Blanco, Francesca; Bernardo, Pia; Nigro, Vincenzo; Piluso, Giulio Journal: American journal of medical genetics Issue: Volume 176:Issue 3(2018) Page Start: 722 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Unusual association of non-anaplastic Wilms tumor and Cornelia de Lange syndrome: case report. Issue 1 (December 2016) Authors: Santoro, Claudia; Apicella, Andrea; Casale, Fiorina; La Manna, Angela; Di Martino, Martina; Di Pinto, Daniela; Indolfi, Cristiana; Perrotta, Silverio Journal: BMC cancer Issue: Volume 16:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗