Author/Creator: Piane, Maria - British Library Electronic Legal Deposit Catalogue-Journal Issues and Articles Search Results

Author/Creator Piane, Maria

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
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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
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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
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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
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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
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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
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