1. 1064 LONG QTC IN HCM: A CONSEQUENCE OF MYOCARDIAL HYPERTROPHY OR A DISTINCT GENETIC DISEASE?. (15th December 2022) Authors: Cava, Francesco; Micolonghi, Caterina; Savio, Camilla; Musumeci, Maria Beatrice; Melato, Giacomo Tini; Petrucci, Simona; Alesi, L; Germani, Aldo; Piane, Maria; Autore, Camillo; Rubattu, Speranza Donatella Journal: European heart journal supplements Issue: Volume 24(2022)Supplement K Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 370 The CO-existence of KCNQ1 and TNNI3 genes mutations supports the genetic origin of QTC abnormalities in hypertrophic cardiomyopathy. (17th December 2020) Authors: Cava, Francesco; Cristiano, Ernesto; Lo Monaco, Maria; Musumeci, Maria Beatrice; Savio, Camilla; Petrucci, Simona; Rubattu, Speranza Donatella; Piane, Maria; Autore, Camillo Journal: European heart journal supplements Issue: Volume 22(2020)Supplement N Page Start: N83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A novel c.952T>C mutation in Notch3 gene in a patient with chronic non‐migraine‐like headache: Expanding the genotypic spectrum of CADASIL?. Issue 1 (11th April 2022) Authors: Scala, Irene; Piane, Maria; Frisullo, Giovanni; Marotta, Jessica; Bellavia, Simone; Rizzo, Pier Andrea; Rollo, Eleonora; Vollono, Catello; Pizzuti, Antonio; Brunetti, Valerio; Della Marca, Giacomo Journal: Clinical genetics Issue: Volume 102:Issue 1(2022) Page Start: 82 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations. Issue 4 (9th June 2013) Authors: Magliozzi, Monia; Piane, Maria; Torrente, Isabella; Sinibaldi, Lorenzo; Rizzo, Giovanni; Savio, Camilla; Lulli, Patrizia; De Luca, Alessandro; Dallapiccola, Bruno; Chessa, Luciana Journal: Disease markers Issue: Volume 22:Issue 4(2006) Page Start: 257 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Mild Neurological Phenotype Associated with Hypomorphic Variants in the Ataxia‐Telangiectasia Mutated Gene. Issue 1 (10th December 2022) Authors: Caputi, Caterina; Federici, Giulia; Soddu, Silvia; Travaglini, Lorena; Piane, Maria; Bertini, Enrico; Zanni, Ginevra; Leuzzi, Vincenzo Journal: Movement disorders clinical practice Issue: Volume 10:Issue 1(2023) Page Start: 124 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. 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) ↗