Výsledky vyhledávání - Isabella Mammi
- Zobrazuji výsledky 1 - 5 z 5
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Characterization of intellectual disability and autism comorbidity through gene panel sequencing Autor Maria Cristina Aspromonte, Mariagrazia Bellini, Alessandra Gasparini, Marco Carraro, Elisa Bettella, Roberta Polli, Federica Cesca, Stefania Bigoni, Stefania Boni, Ombretta Carlet, Susanna Negrin, Isabella Mammi, Donatella Milani, Angela Peron, Stefano Sartori, Irene Toldo, Fiorenza Soli, Licia Turolla, Franco Stanzial, Francesco Benedicenti, Cristina Marino‐Buslje, Silvio C. E. Tosatto, Alessandra Murgia, Emanuela Leonardi
Vydáno 2019Artigo -
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NANS-mediated synthesis of sialic acid is required for brain and skeletal development Autor Clara van Karnebeek, Luisa Bonafé, Xiao‐Yan Wen, Maja Tarailo‐Graovac, Sara Balzano, Béryl Royer‐Bertrand, Angel Ashikov, Livia Garavelli, Isabella Mammi, Licia Turolla, Catherine Breen, Dian Donnai, Valérie Cormier‐Daire, Delphine Héron, Gen Nishimura, Shinichi Uchikawa, Belinda Campos‐Xavier, Antonio Rossi, Thierry Hennet, Koroboshka Brand‐Arzamendi, Jacob Rozmus, Keith Harshman, Brian J. Stevenson, Enrico Girardi, Giulio Superti‐Furga, Tammie Dewan, Alissa Collingridge, Jessie Halparin, Colin J.D. Ross, Margot I. Van Allen, Andrea Rossi, Udo F. H. Engelke, Leo A. J. Kluijtmans, E. van der Heeft, G. Herma Renkema, Arjan de Brouwer, Karin Huijben, Fokje Zijlstra, Torben Heise, Thomas J. Boltje, Wyeth W. Wasserman, Carlo Rivolta, Sheila Unger, Dirk J. Lefeber, Ron A. Wevers, Andrea Superti‐Furga
Vydáno 2016Artigo -
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Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients Autor Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Chiara Baldo, Allan Bayat, Elga Fabia Belligni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Čuturilo, Koenraad Devriendt, Mary Beth Dinulos, Olivera Djurić, Roberta Epifanio, Francesca Faravelli, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Didier Lacombe, Massimo Maggi, Barış Malbora, Isabella Mammi, Sébastien Moutton, Rikke S. Møller, Petra Muschke, Manuela Napoli, Chiara Pantaleoni, Rosario Pascarella, Alessandro Pellicciari, María Luisa Poch-Olivé, Federico Raviglione, Francesca Rivieri, Carmela Russo, Salvatore Savasta, Gioacchino Scarano, Angelo Selicorni, Margherita Silengo, Giovanni Sorge, Luigi Tarani, Luíz Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Nicoletta Zanotta, Marcella Zollino, William B. Dobyns, Alex R. Paciorkowski
Vydáno 2016Artigo -
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Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care Autor Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi, Daniela Santodirocco, Marzia Pollazzon, Simonetta Rosato, Duccio Maria Cordelli, Ebtesam Abdalla, Patrizia Accorsi, Margaret P Adam, Paola Francesca Ajmone, Magdalena Badura‐Stronka, Chiara Baldo, Maddalena Baldi, Allan Bayat, Stefania Bigoni, Federico Bonvicini, Jeroen Breckpot, Bert Callewaert, Guido Cocchi, Goran Čuturilo, Daniele De Brasi, Koenraad Devriendt, Mary Beth Dinulos, Tina Duelund Hjortshøj, Roberta Epifanio, Francesca Faravelli, Agata Fiumara, Debora Formisano, Lucio Giordano, Marina Grasso, Sabine Grønborg, Alessandro Iodice, Lorenzo Iughetti, Vladimir Kuburović, Anna Kutkowska‐Kaźmierczak, Didier Lacombe, Caterina Lo Rizzo, Anna Luchetti, Barış Malbora, Isabella Mammi, Francesca Mari, Giulia Montorsi, Sébastien Moutton, Rikke S. Møller, Petra Muschke, Jens Erik Nielsen, Ewa Obersztyn, Chiara Pantaleoni, Alessandro Pellicciari, Maria Antonietta Pisanti, Igor Prpić, María Luisa Poch-Olivé, Federico Raviglione, Alessandra Renieri, Emilia Ricci, Francesca Rivieri, Gijs W.E. Santen, Salvatore Savasta, Gioacchino Scarano, Ina Schanze, Angelo Selicorni, Margherita Silengo, Robert Śmigiel, Luigina Spaccini, Giovanni Sorge, Krzysztof Szczałuba, Luigi Tarani, Luíz Gonzaga Tone, Annick Toutain, Aurélien Trimouille, Elvis Terci Valera, Samantha A. Schrier Vergano, Nicoletta Zanotta, Martin Zenker, Andrea Conidi, Marcella Zollino, Anita Rauch, Christiane Zweier, Livia Garavelli
Vydáno 2018Artigo
Vyhledávací nástroje:
Související témata
Biology
Medicine
Gene
Genetics
Phenotype
Psychiatry
Autism
Autism spectrum disorder
Biochemistry
Bioinformatics
Candidate gene
Cell biology
Comorbidity
Computational biology
Disease
Exome sequencing
Gene knockdown
Genotype
Genotype-phenotype distinction
In silico
Intellectual disability
Metabolism
Neurofibromatosis
Neuroimaging
Neuroscience
Paleontology
Pathology
Psychology
Sialic acid
Type (biology)