Showing 1 - 11 results of 11 for search 'Elena Manara', query time: 0.04s
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Recessive multiple epiphyseal dysplasia and Stargardt disease in two sisters by Leonardo Gatticchi, Dominika Vešelényiová, Jan Miertus, Paolo Enrico Maltese, Elena Manara, Alisia Costantini, Sabrina Benedetti, Darina Ďurovčíková, Juraj Krajcovic, Matteo Bertelli
Published 2021-04-01
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Genetic contributions to the etiology of anorexia nervosa: New perspectives in molecular diagnosis and treatment by Stefano Paolacci, Aysha Karim Kiani, Elena Manara, Tommaso Beccari, Maria Rachele Ceccarini, Liborio Stuppia, Pietro Chiurazzi, Laura Dalla Ragione, Matteo Bertelli
Published 2020-07-01
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Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations by Stefano Paolacci, Raul Ettore Mattassi, Giuseppe Marceddu, Elena Manara, Alessandra Zulian, Giulia Guerri, Luca De Antoni, Carlo Arduino, Daniela Cavalca, Matteo Bertelli
Published 2020-10-01
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Investigation on the role of biallelic variants in VEGF‐C found in a patient affected by Milroy‐like lymphedema by Sylvain Mukenge, Sawan K. Jha, Marco Catena, Elena Manara, Veli‐Matti Leppänen, Elisa Lenti, Daniela Negrini, Matteo Bertelli, Andrea Brendolan, Michael Jeltsch, Luca Aldrighetti
Published 2020-09-01
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Clinical Evaluation of a Custom Gene Panel as a Tool for Precision Male Infertility Diagnosis by Next-Generation Sequencing by Rossella Cannarella, Vincenza Precone, Giulia Guerri, Gian Maria Busetto, Gian Carlo Di Renzo, Sandro Gerli, Elena Manara, Astrit Dautaj, Matteo Bertelli, Aldo Eugenio Calogero
Published 2020-10-01
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Aldo-Keto Reductase 1C1 (<i>AKR1C1</i>) as the First Mutated Gene in a Family with Nonsyndromic Primary Lipedema by Sandro Michelini, Pietro Chiurazzi, Valerio Marino, Daniele Dell’Orco, Elena Manara, Mirko Baglivo, Alessandro Fiorentino, Paolo Enrico Maltese, Michele Pinelli, Karen Louise Herbst, Astrit Dautaj, Matteo Bertelli
Published 2020-08-01
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Expanding the Clinical and Genetic Spectrum of <i>RAB28</i>-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families by Giancarlo Iarossi, Valerio Marino, Paolo Enrico Maltese, Leonardo Colombo, Fabiana D’Esposito, Elena Manara, Kristjana Dhuli, Antonio Mattia Modarelli, Gilda Cennamo, Adriano Magli, Daniele Dell’Orco, Matteo Bertelli
Published 2020-12-01
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Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study by Elena Manara, Stefano Paolacci, Fabiana D’Esposito, Andi Abeshi, Lucia Ziccardi, Benedetto Falsini, Leonardo Colombo, Giancarlo Iarossi, Alba Pilotta, Loredana Boccone, Giulia Guerri, Marica Monica, Balzarini Marta, Paolo Enrico Maltese, Luca Buzzonetti, Luca Rossetti, Matteo Bertelli
Published 2019-06-01
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A Multi-Gene Panel to Identify Lipedema-Predisposing Genetic Variants by a Next-Generation Sequencing Strategy by Sandro Michelini, Karen L. Herbst, Vincenza Precone, Elena Manara, Giuseppe Marceddu, Astrit Dautaj, Paolo Enrico Maltese, Stefano Paolacci, Maria Rachele Ceccarini, Tommaso Beccari, Elisa Sorrentino, Barbara Aquilanti, Valeria Velluti, Giuseppina Matera, Lucilla Gagliardi, Giacinto Abele Donato Miggiano, Matteo Bertelli
Published 2022-02-01
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Segregation Analysis of Rare <i>NRP1</i> and <i>NRP2</i> Variants in Families with Lymphedema by Sandro Michelini, Bruno Amato, Maurizio Ricci, Sercan Kenanoglu, Dominika Veselenyiova, Danjela Kurti, Mirko Baglivo, Elena Manara, Munis Dundar, Juraj Krajcovic, Syed Hussain Basha, Sasi Priya, Roberta Serrani, Giacinto A. D. Miggiano, Barbara Aquilanti, Giuseppina Matera, Valeria Velluti, Lucilla Gagliardi, Astrit Dautaj, Matteo Bertelli
Published 2020-11-01
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