Search Results - Federico Zara

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  1. 1
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    NF1 microdeletion syndrome: case report of two new patients by Gregorio Serra, Vincenzo Antona, Giovanni Corsello, Federico Zara, Ettore Piro, Raffaele Falsaperla

    Published 2019
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  2. 2
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    Molecular Genetics in Neuroblastoma Prognosis by Margherita Lerone, Marzia Ognibene, Annalisa Pezzolo, Giuseppe Martucciello, Federico Zara, Martina Morini, Katia Mazzocco

    Published 2021
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  3. 3
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    Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1 by Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro

    Published 2018
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  4. 4
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    Diagnostic Approach to Macrocephaly in Children by Andrea Accogli, Ana Filipa Geraldo, Gianluca Piccolo, Antonella Riva, Marcello Scala, Ganna Balagura, Vincenzo Salpietro, Vincenzo Salpietro, Francesca Madia, Mohamad Maghnie, Mohamad Maghnie, Federico Zara, Federico Zara, Pasquale Striano, Pasquale Striano, Domenico Tortora, Mariasavina Severino, Valeria Capra

    Published 2022
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  5. 5
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    Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia by Ferruccio Romano, Elisabetta Amadori, Elisabetta Amadori, Francesca Madia, Mariasavina Severino, Valeria Capra, Renata Rizzo, Rita Barone, Beatrice Corradi, Beatrice Corradi, Luca Maragliano, Luca Maragliano, Mohammad Sadegh Shams Nosrati, Antonio Falace, Pasquale Striano, Pasquale Striano, Federico Zara, Federico Zara, Marcello Scala, Marcello Scala

    Published 2023
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  6. 6
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    Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants by Marcello Scala, Midas Anijs, Roberta Battini, Francesca Madia, Valeria Capra, Paolo Scudieri, Alberto Verrotti, Federico Zara, Carlo Minetti, Sonja C. Vernes, Pasquale Striano

    Published 2021
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  7. 7
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    Pharmacological rescue of the G85E CFTR variant by preclinical and approved modulators by Valeria Tomati, Valeria Capurro, Emanuela Pesce, Cristina Pastorino, Elvira Sondo, Mariateresa Lena, Mariateresa Lena, Anna Borrelli, Federico Cresta, Stefano Pantano, Francesca Collini, Pietro Ripani, Vito Terlizzi, Cristina Fevola, Stefano Costa, Maria Cristina Lucanto, Federico Zara, Federico Zara, Tiziano Bandiera, Renata Bocciardi, Renata Bocciardi, Carlo Castellani, Luis J. V. Galietta, Nicoletta Pedemonte

    Published 2024
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  8. 8
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    Long term follow-up in two siblings with Sengers syndrome: Case report by Chiara Panicucci, Maria Cristina Schiaffino, Claudia Nesti, Maria Derchi, Gianluca Trocchio, Mariasavina Severino, Nicola Stagnaro, Enrico Priolo, Federico Zara, Filippo M. Santorelli, Claudio Bruno

    Published 2022
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  9. 9
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    Case report: Revascularization failure in NF1-related moyamoya syndrome after selumetinib: A possible pathophysiological correlation? by Cristina Chelleri, Cristina Chelleri, Marcello Scala, Marcello Scala, Patrizia De Marco, Monica Traverso, Marzia Ognibene, Irene Bruno, Gianluca Piccolo, Pasquale Striano, Pasquale Striano, Mariasavina Severino, Federico Zara, Maria Cristina Diana, Marco Pavanello

    Published 2023
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  10. 10
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    A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome by Antonella Riva, Antonella Riva, Giulia Nobile, Thea Giacomini, Thea Giacomini, Marzia Ognibene, Marcello Scala, Marcello Scala, Ganna Balagura, Francesca Madia, Andrea Accogli, Andrea Accogli, Ferruccio Romano, Domenico Tortora, Mariasavina Severino, Paolo Scudieri, Paolo Scudieri, Simona Baldassari, Ilaria Musante, Paolo Uva, Vincenzo Salpietro, Vincenzo Salpietro, Annalaura Torella, Annalaura Torella, Vincenzo Nigro, Vincenzo Nigro, Valeria Capra, Lino Nobili, Lino Nobili, Pasquale Striano, Pasquale Striano, Maria Margherita Mancardi, Maria Margherita Mancardi, Federico Zara, Federico Zara, Michele Iacomino, Michele Iacomino

    Published 2022
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  11. 11
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    Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications by Stefan Wolking, Stefan Wolking, Ciarán Campbell, Caragh Stapleton, Mark McCormack, Norman Delanty, Norman Delanty, Norman Delanty, Chantal Depondt, Michael R. Johnson, Bobby P. C. Koeleman, Roland Krause, Wolfram S. Kunz, Anthony G. Marson, Anthony G. Marson, Anthony G. Marson, Josemir W. Sander, Josemir W. Sander, Josemir W. Sander, Graeme J. Sills, Pasquale Striano, Pasquale Striano, Federico Zara, Federico Zara, Sanjay M. Sisodiya, Sanjay M. Sisodiya, Gianpiero L. Cavalleri, Gianpiero L. Cavalleri, Gianpiero L. Cavalleri, Holger Lerche, EpiPGX Consortium

    Published 2021
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