検索結果 - Mariasavina Severino

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  1. 1
    The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a

    The Shrunken, Bright Cerebellum: A Characteristic MRI Finding in Congenital Disorders of Glycosylation Type 1a 著者: Paola Feraco, Marisol Mirabelli-Badenier, Mariasavina Severino, M. G. Alpigiani, Maja Di Rocco, Roberta Biancheri, Andrea Rossi

    出版事項 2012
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  2. 2
    Sinus pericranii: diagnosis and management in 21 pediatric patients

    Sinus pericranii: diagnosis and management in 21 pediatric patients 著者: Marco Pavanello, Ilaria Melloni, Eleonora Antichi, Mariasavina Severino, Marcello Ravegnani, Gianluca Piatelli, Armando Cama, Andrea Rossi, Carlo Gandolfo

    出版事項 2014
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  3. 3
    Bilateral lesions of the basal ganglia and thalami (central grey matter)—pictorial review

    Bilateral lesions of the basal ganglia and thalami (central grey matter)—pictorial review 著者: Sofie Van Cauter, Mariasavina Severino, Rosamaria Ammendola, Brecht Van Berkel, Hrvoje Vavro, Luc van den Hauwe, Zoran Rumboldt

    出版事項 2020
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    Revisão
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  4. 4
    Diffuse Leptomeningeal Glioneuronal Tumors: A New Entity?

    Diffuse Leptomeningeal Glioneuronal Tumors: A New Entity? 著者: Marina Paola Gardiman, Matteo Fassan, Enrico Orvieto, Domenico D’Avella, Luca Denaro, Milena Calderone, Mariasavina Severino, Giovanni Scarsello, Elisabetta Viscardi, Giorgio Perilongo

    出版事項 2009
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  5. 5
    Early Pain Exposure Influences Functional Brain Connectivity in Very Preterm Neonates

    Early Pain Exposure Influences Functional Brain Connectivity in Very Preterm Neonates 著者: Domenico Tortora, Mariasavina Severino, Carlo Di Biase, Mariya Malova, Alessandro Parodi, Diego Minghetti, Cristina Traggiai, Sarà Uccella, Luca Boeri, Giovanni Morana, Andrea Rossi, Luca A. Ramenghi

    出版事項 2019
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  6. 6
    Diagnostic Approach to Macrocephaly in Children

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

    出版事項 2022
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  7. 7
    Novel Dynein<i>DYNC1H1</i>Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development

    Novel Dynein<i>DYNC1H1</i>Neck and Motor Domain Mutations Link Distal Spinal Muscular Atrophy and Abnormal Cortical Development 著者: Chiara Fiorillo, Francesca Moro, Julie Yi, Sarah J. Weil, Giacomo Brisca, Guja Astrea, Mariasavina Severino, Alessandro Romano, Roberta Battini, Andrea Rossi, Carlo Minetti, Claudio Bruno, Filippo M. Santorelli, Richard B. Vallee

    出版事項 2013
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  8. 8
    Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females

    Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females 著者: Marcello Scala, Annalaura Torella, Mariasavina Severino, Giovanni Morana, Raffaele Castello, Andrea Accogli, Antonio Verrico, Maria Stella Vari, Gerarda Cappuccio, Michele Pinelli, Giuseppina Vitiello, Gaetano Terrone, Alessandra D’Amico, Vincenzo Nigro, Valeria Capra

    出版事項 2019
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  9. 9
    Definitions and classification of malformations of cortical development: practical guidelines

    Definitions and classification of malformations of cortical development: practical guidelines 著者: Mariasavina Severino, Ana Filipa Geraldo, Norbert Utz, Domenico Tortora, Ivana Pogledić, Włodzimierz Klonowski, Fabio Triulzi, Filippo Arrigoni, Kshitij Mankad, Richard J. Leventer, Grazia M.S. Mancini, James Barkovich, Maarten H. Lequin, Andrea Rossi

    出版事項 2020
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  10. 10
    Added value of diffusion weighted imaging in pediatric central nervous system embryonal tumors surveillance

    Added value of diffusion weighted imaging in pediatric central nervous system embryonal tumors surveillance 著者: Giovanni Morana, César Augusto Pinheiro Ferreira Alves, Domenico Tortora, Mariasavina Severino, Paolo Nozza, Armando Cama, Marcello Ravegnani, Gabriella D’Apolito, Alessandro Raso, Claudia Milanaccio, Cláudia da Costa Leite, Maria Luisa Garrè, Andrea Rossi

    出版事項 2017
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  11. 11
    Neuroimaging Changes in Menkes Disease, Part 1

    Neuroimaging Changes in Menkes Disease, Part 1 著者: Renzo Manara, L. D'agata, Maria Chiara Rocco, Raffaella Cusmai, Elena Freri, Lorenzo Pinelli, Francesca Darra, Elena Procopio, Rodica Mardari, Caterina Zanus, Gabriella Di Rosa, Consolata Soddu, Mariasavina Severino, Mario Ermani, Daniela Longo, Stefano Sartori

    出版事項 2017
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  12. 12
    VP25.20: Molar tooth dysplasias in the fetus: differential diagnosis with vermian anomalies from distinct origin

    VP25.20: Molar tooth dysplasias in the fetus: differential diagnosis with vermian anomalies from distinct origin 著者: K.K. Haratz, Z. Leibovitz, P.S. Oliveira, R. García Rodríguez, Mariasavina Severino, A. Michelle Fink, George McGillivray, Rick Leventer, Fernando Nuez Viñals, W. Krzeszowski, Lotem Dafna, L. Gindes, L. Dorit, Liat Ben‐Sira, Debora Kidron, Ayala Arad, R. Birnbaum, M. Brusilov, J. Har‐Toov, M. Tamarkin, Y. Shalev, Tally Lerman‐Sagie, G. Malinger

    出版事項 2020
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  13. 13
    ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study

    ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study 著者: Roberta Caorsi, Federica Penco, Alice Grossi, Antonella Insalaco, Alessia Omenetti, Maria Alessio, Giovanni Conti, Federico Marchetti, Paolo Picco, Alberto Tommasini, Silvana Martino, Clara Malattia, Romina Gallizi, Rosa Anna Podda, Annalisa Salis, Fernanda Falcini, Francesca Schena, Francesca Garbarino, Alessia Morreale, Manuela Pardeo, Claudia Ventrici, Chiara Passarelli, Qing Zhou, Mariasavina Severino, Carlo Gandolfo, Gianluca Damonte, Alberto Martini, Angelo Ravelli, Ivona Aksentijevich, Isabella Ceccherini, Marco Gattorno

    出版事項 2017
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  14. 14
    Novel loss-of-function variants expand <i>ABCC9</i>-related intellectual disability and myopathy syndrome

    Novel loss-of-function variants expand <i>ABCC9</i>-related intellectual disability and myopathy syndrome 著者: Stéphanie Efthymiou, Marcello Scala, Vini Nagaraj, Katarzyna Ochenkowska, Fenne L. Komdeur, Robin A Liang, Mohamed S. Abdel‐Hamid, Tipu Sultan, Tuva Barøy, Marijke Van Ghelue, Barbara Vona, Reza Maroofian, Faisal Zafar, Fowzan S. Alkuraya, Maha S. Zaki, Mariasavina Severino, Kingsley C. Duru, Robert C. Tryon, Lin Vigdis Brauteset, Morad Ansari, Mark Hamilton, Mieke M. van Haelst, Gijs van Haaften, Federico Zara, Henry Houlden, Éric Samarut, Colin G. Nichols, Marie Falkenberg Smeland, Conor McClenaghan

    出版事項 2024
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  15. 15
    Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly

    Prenatal diagnosis of rhombencephalosynapsis: neuroimaging features and severity of vermian anomaly 著者: Karina Krajden Haratz, P.S. Oliveira, M. Govindaswamy, Z. Leibovitz, L. Gindes, Mariasavina Severino, Andrea Rossi, D. Paladini, R. García Rodríguez, Liat Ben‐Sira, T. Borkowski Tillman, Rachna Gupta, G. Lotem, Nili Raz, Tatiana Emy Nishimoto Kawanami Hamamoto, Debora Kidron, Ayala Arad, R. Birnbaum, M. Brussilov, Léo Pomar, Yvan Vial, Richard J. Leventer, George McGillivray, A. Michelle Fink, Waldemar Krzeszowski, Antônio Fernandes Moron, Dina Lev, M. Tamarkin, J. Shalev, J. Har Toov, T. Lerman‐Sagie, G. Malinger

    出版事項 2021
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  16. 16
    Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction

    Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction 著者: Niccolò E. Mencacci, Georgia Minakaki, Reza Maroofian, Raffaella De Pace, Adeline Paimboeuf, P. V. R. SHANNON, David Chitayat, Francesca Magrinelli, Wesley Peng, Diptaman Chatterjee, Sara H. El‐Dessouky, Júlia Baptista, Tamás Marton, Julie Vogt, Juan Darío Ortigoza‐Escobar, Loreto Martorell, Marta Gómez‐Chiari, Ingrid M. Wentzensen, Erik‐Jan Kamsteeg, Maha S. Zaki, Annarita Scardamaglia, Giovanni Zifarelli, Zuhair N. Al‐Hassnan, Elka Miller, Shiri Shinar, Lova S. Matsa, Sri Hari Chandan Appikonda, Michael Schwake, Mariasavina Severino, Henry Houlden, Shunmoogum A. Patten, Juan S. Bonifacino, Kailash P. Bhatia, Dimitri Krainc

    出版事項 2025
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  17. 17
    Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome

    Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome 著者: May El Hachem, Andrea Diociaiuti, Angela Galeotti, Francesca Grussu, Elena Gusson, Alessandro Ferretti, Carlo Efisio Marras, Davide Vecchio, Simona Cappelletti, Mariasavina Severino, Carlo Gandolfo, Simone Reali, Rosa Longo, Carmen D’Amore, Lodovica Gariazzo, Federica Marraffa, Marta Luisa Ciofi degli Atti, Maria Margherita Mancardi, Francesco Aristei, Alessandra Biolcati Rinaldi, Giacomo Brisca, Gaetano Cantalupo, Alessandro Consales, Luca De Palma, Matteo Federici, Elena Fontana, Thea Giacomini, Nicola Laffi, Laura Longaretti, Giorgio Marchini, Lino Nobili, C. Occella, Eleonora Pedrazzoli, Enrico Priolo, Giuseppe Kenneth Ricciardi, Erika Rigotti, Donatella Schena, Lorenzo Trevisiol, Urbano Urbani, Federico Vigevano

    出版事項 2025
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  18. 18
    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

    Biallelic <i>ADAM22</i> pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy 著者: Marieke M van der Knoop, Reza Maroofian, Yuko Fukata, Yvette van Ierland, Ehsan Ghayoor Karimiani, Anna‐Elina Lehesjoki, Mikko Muona, Anders Paetau, Yuri Miyazaki, Yoko Hirano, Laila Selim, Marina de França, Rodrigo Ambrósio Fock, Christian Beetz, Claudia Ruivenkamp, Alison Eaton, Francois D Morneau-Jacob, Lena Sagi‐Dain, Lilach Shemer-Meiri, Amir Peleg, Jumana Haddad‐Halloun, D.J. Kamphuis, Cacha Peeters‐Scholte, Semra Hız Kurul, Rita Horváth, Hanns Lochmüller, David Murphy, Stephan Waldmüller, Stephanie Spranger, David Overberg, Alison M. Muir, Abolfazl Rad, Barbara Vona, Firdous Abdulwahad, Sateesh Maddirevula, Inna Povolotskaya, V. Yu. Voinova, Vykuntaraju K. Gowda, Varunvenkat M. Srinivasan, Fowzan S. Alkuraya, Heather C. Mefford, Majid Alfadhel, Tobias B. Haack, Pasquale Striano, Mariasavina Severino, Masaki Fukata, Yvonne Hilhorst‐Hofstee, Henry Houlden

    出版事項 2022
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  19. 19
    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

    Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 著者: Pamela Magini, Daphne J. Smits, Laura Vandervore, Rachel Schot, Marta Columbaro, Esmee Kasteleijn, Mees van der Ent, Flavia Palombo, Maarten H. Lequin, Marjolein H. G. Dremmen, Marie‐Claire Y. de Wit, Mariasavina Severino, Maria Teresa Divizia, Pasquale Striano, Natalia Ordonez‐Herrera, Amal Alhashem, Ahmed Fares, Malak Al Ghamdi, Arndt Rolfs, Peter Bauer, Jeroen Demmers, Frans W. Verheijen, Martina Wilke, Marjon van Slegtenhorst, Peter J. van der Spek, Marco Seri, Anna Jansen, Rolf W. Stottmann, Robert B. Hufnagel, Robert J. Hopkin, Deema Aljeaid, Wojciech Wiszniewski, Paweł Gawliński, Milena Laure‐Kamionowska, Fowzan S. Alkuraya, Hanah Akleh, Valentina Stanley, Damir Musaev, Joseph G. Gleeson, Maha S. Zaki, Nicola Brunetti‐Pierri, Gerarda Cappuccio, Bella Davidov, Lina Basel‐Vanagaite, Lily Bazak, Noa Ruhrman‐Shahar, Aida M. Bertoli‐Avella, Ghayda Mirzaa, William B. Dobyns, Tommaso Pippucci, Maarten Fornerod, Grazia M.S. Mancini

    出版事項 2019
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  20. 20
    The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

    The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders 著者: Jai Sidpra, Sniya Sudhakar, Asthik Biswas, Flavia Massey, Valentina Turchetti, Tracy Lau, Edward Cook, Javeria Raza Alvi, Hasnaa M. Elbendary, Jerry Jewell, Antonella Riva, Alessandro Orsini, Aglaia Vignoli, Zara Federico, Jessica Rosenblum, An‐Sofie Schoonjans, Matthias De Wachter, Ignacio Delgado Alvarez, Ana Felipe‐Rucián, Nourelhoda A. Haridy, Shahzad Haider, Mashaya Zaman, Selina Banu, Najwa Anwaar, Fatima Rahman, Shazia Maqbool, Rashmi Yadav, Vincenzo Salpietro, Reza Maroofian, Rajan Patel, Rupa Radhakrishnan, Sanjay P. Prabhu, Klaske D. Lichtenbelt, Helen Stewart, Yoshiko Murakami, Ulrike Löbel, Felice D’Arco, Emma Wakeling, Wendy D. Jones, Eleanor Hay, Sanjay Bhate, Thomas S. Jacques, David M. Mirsky, Matthew T. Whitehead, Maha S. Zaki, Tipu Sultan, Pasquale Striano, Anna Jansen, Maarten H. Lequin, Linda S. de Vries, Mariasavina Severino, Andrew C. Edmondson, Lara Menzies, Philippe M. Campeau, Henry Houlden, Amy McTague, Stéphanie Efthymiou, Kshitij Mankad

    出版事項 2024
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