Resultats de la cerca - Diana Carli

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  1. 1
    Complications of Particle Embolization of Meningiomas: Frequency, Risk Factors, and Outcome: Fig 1.

    Complications of Particle Embolization of Meningiomas: Frequency, Risk Factors, and Outcome: Fig 1. per Diana Carli, M. Sluzewski, Guus N. Beute, Willem Jan van Rooij

    Publicat 2009
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  2. 2
    Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib

    Exploring New Drug Repurposing Opportunities for MEK Inhibitors in RASopathies: A Comprehensive Review of Safety, Efficacy, and Future Perspectives of Trametinib and Selumetinib per Andrea Gazzin, Federico Fornari, Simona Cardaropoli, Diana Carli, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro Mussa

    Publicat 2024
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  3. 3
    Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome

    Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome per Alessandro Mussa, Cristina Molinatto, Flavia Cerrato, Orazio Palumbo, Massimo Carella, Giuseppina Baldassarre, Diana Carli, Clementina Peris, Andrea Riccio, Giovanni Battista Ferrero

    Publicat 2017
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  4. 4
    Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review

    Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review per G.J. Reynolds, Andrea Gazzin, Diana Carli, Stefania Massuras, Simona Cardaropoli, Maria Luca, Beatrice Defilippi, Marco Tartaglia, Giovanni Battista Ferrero, Alessandro Mussa

    Publicat 2025
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  5. 5
    MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease

    MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease per Alessandro Mussa, Diana Carli, Elisa Giorgio, Anna Maria Villar, Simona Cardaropoli, Caterina Carbonara, Maria Francesca Campagnoli, Paolo Galletto, Martina Palumbo, Simone Olivieri, Claudio Isella, Grégor Andelfinger, Marco Tartaglia, Giovanni Botta, Alfredo Brusco, Enzo Médico, Giovanni Battista Ferrero

    Publicat 2021
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  6. 6
    Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

    Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus per Federica Maria Valente, Angela Sparago, Andrea Freschi, Katherine L Hill-Harfe, Saskia M. Maas, Suzanna G.M. Frints, Mariëlle Alders, Laura Pignata, Monica Franzese, Claudia Angelini, Diana Carli, Alessandro Mussa, Andrea Gazzin, Fulvio Gabbarini, Basilia Acurzio, Giovanni Battista Ferrero, Jet Bliek, Charles A. Williams, Andrea Riccio, Flavia Cerrato

    Publicat 2019
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  7. 7
    <i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

    <i>CAPRIN1</i> haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD per Lisa Pavinato, Andrea Delle Vedove, Diana Carli, Marta Ferrero, Silvia Carestiato, Jennifer Howe, Emanuele Agolini, Domenico Coviello, Ingrid M.B.H. van de Laar, Ping Yee Billie Au, Eleonora Di Gregorio, Alessandra Fabbiani, Susanna Croci, Maria Antonietta Mencarelli, Lucia Pia Bruno, Alessandra Renieri, Danai Veltra, Christalena Sofocleous, Laurence Faivre, Benoît Mazel, Hana Safraou, Anne‐Sophie Denommé‐Pichon, Marjon A. van Slegtenhorst, Noor A. A. Giesbertz, Richard H. van Jaarsveld, Anna K. Childers, R. Curtis Rogers, Antonio Novelli, Silvia De Rubeis, Joseph D. Buxbaum, Stephen W. Scherer, Giovanni Battista Ferrero, Brunhilde Wirth, Alfredo Brusco

    Publicat 2022
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  8. 8
    Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients

    Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients per Laura Bryant, Dong Li, Samuel G. Cox, Dylan M. Marchione, Evan F. Joiner, Khadija Wilson, Kevin A. Janssen, Pearl Lee, Michael March, Divya Nair, Elliott H. Sherr, Brieana Fregeau, Klaas J. Wierenga, Alexandrea Wadley, Grazia M.S. Mancini, Nina Powell‐Hamilton, Jiddeke van de Kamp, Theresa A. Grebe, John Dean, Alison Ross, Heather P. Crawford, Zöe Powis, Megan T. Cho, Marcia Willing, Linda Manwaring, Rachel Schot, Caroline Nava, Alexandra Afenjar, Davor Lessel, Matias Wagner, Thomas Klopstock, Juliane Winkelmann, Claudia B. Catarino, Kyle Retterer, Jane L. Schuette, Jeffrey W. Innis, Amy Pizzino, Sabine Lüttgen, Jonas Denecke, Tim M. Strom, Kristin G. Monaghan, Zuo‐Fei Yuan, Holly Dubbs, Renee Bend, Jennifer A. Lee, Michael J. Lyons, Julia Hoefele, Roman Günthner, Heiko Reutter, Boris Keren, Kelly Radtke, Omar Sherbini, Cameron Mrokse, Katherine L. Helbig, Sylvie Odent, Benjamin Cogné, Sandra Mercier, Stéphane Bézieau, Thomas Besnard, Sébastien Küry, Richard Redon, Karit Reinson, Monica H. Wojcik, Katrin Õunap, Pilvi Ilves, A. Micheil Innes, Kristin D. Kernohan, Gregory Costain, M. Stephen Meyn, David Chitayat, Elaine H. Zackai, Anna Lehman, Hilary Kitson, Martin G. Martin, Julián A. Martínez-Agosto, Stan F. Nelson, Christina G.S. Palmer, Jeanette C. Papp, Neil H. Parker, Janet S. Sinsheimer, Éric Vilain, Jijun Wan, Amanda J. Yoon, Allison Zheng, Elise Brimble, Giovanni Battista Ferrero, Francesca Clementina Radio, Diana Carli, Sabina Barresi, Alfredo Brusco, Marco Tartaglia, Jennifer Muncy Thomas, Luis A. Umaña, Marjan M. Weiss, Garrett Gotway, Kyra E. Stuurman, Michelle L. Thompson, Kirsty McWalter, Constance T. R. M. Stumpel, Servi J.C. Stevens

    Publicat 2020
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  9. 9
    Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

    Rare coding variation provides insight into the genetic architecture and phenotypic context of autism per Jack Fu, F. Kyle Satterstrom, Minshi Peng, Harrison Brand, Ryan L. Collins, Shan Dong, Brie Wamsley, Lambertus Klei, Lily Wang, Stephanie P. Hao, Christine Stevens, Caroline Cusick, Mehrtash Babadi, Eric Banks, Brett Collins, Sheila Dodge, Stacey B. Gabriel, Laura D. Gauthier, Samuel K. Lee, Lindsay Liang, Alicia Ljungdahl, Behrang Mahjani, Laura Sloofman, Andrey N. Smirnov, Mafalda Barbosa, Catalina Betancur, Alfredo Brusco, Brian Hon‐Yin Chung, Edwin H. Cook, Michael L. Cuccaro, Enrico Domenici, Giovanni Battista Ferrero, J. Jay Gargus, Gail E. Herman, Irva Hertz‐Picciotto, Patrı́cia Maciel, Dara S. Manoach, Maria Rita Passos‐Bueno, Antonio M. Persico, Alessandra Renieri, James S. Sutcliffe, Flora Tassone, Elisabetta Trabetti, Gabriele da Silva Campos, Simona Cardaropoli, Diana Carli, Marcus C.Y. Chan, Chiara Fallerini, Elisa Giorgio, Ana Cristina De Sanctis Girardi, Emily Hansen‐Kiss, So Lun Lee, Carla Lintas, Yunin Ludeña, Rachel Nguyen, Lisa Pavinato, Margaret A. Pericak‐Vance, Isaac N. Pessah, Rebecca J. Schmidt, Moyra Smith, Claudia Ismania Samogy Costa, Slavica Trajkova, Jaqueline Y. T. Wang, Mullin H.C. Yu, Branko Aleksić, Mykyta Artomov, Elisa Benetti, Monica Biscaldi-Schafer, Anders D. Børglum, Ángel Carracedo, Andreas G. Chiocchetti, Hilary Coon, Ryan N. Doan, Montserrat Fernández Prieto, Christine M. Freitag, Sherif Gerges, Stephen J. Guter, David M. Hougaard, Christina M. Hultman, Suma Jacob, Miia Kaartinen, Alexander Kolevzon, Itaru Kushima, Terho Lehtimäki, Caterina Lo Rizzo, Nell Maltman, Marianna Manara, Gal Meiri, Idan Menashe, Judith Miller, Nancy J. Minshew, Matthew W. Mosconi, Norio Ozaki, Aarno Palotie, Mara Parellada, Kaija Puura, Abraham Reichenberg, Sven Sandin, Stephen W. Scherer, Sabine Schlitt

    Publicat 2022
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