Hasil Pencarian - Marina Di Stefano

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  1. 1
    P676: Deciphering the collagen code: Navigating variant curation complexities in skeletal disorders

    P676: Deciphering the collagen code: Navigating variant curation complexities in skeletal disorders oleh Pamela Ajuyah Robertson, Alicia Byrne, Julie Ratliff, Audrey O'Neill, Marina DiStefano, Deepika Burkardt, Carlos Ferreira, Kerry Brown

    Diterbitkan 2024-01-01
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  2. 2
    P155: The ClinGen framework for naming monogenic diseases*

    P155: The ClinGen framework for naming monogenic diseases* oleh Courtney Thaxton, Leslie Biesecker, Marina DiStefano, Melissa Haendel, Emma Owens, Ada Hamosh, Sharon Plon, Heidi Rehm, Jonathan Berg

    Diterbitkan 2024-01-01
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  3. 3
    P877: Understanding the advantages of translating educational materials for the Clinical Genome Resource

    P877: Understanding the advantages of translating educational materials for the Clinical Genome Resource oleh Ineke Cordova, Zo Bly, Jonathan Berg, Joanna Bulkley, Marina DiStefano, Teri Klein, Joannella Morales, Deborah Ritter, Erin Riggs

    Diterbitkan 2024-01-01
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  4. 4
    Ratio Indexes Based on Spectral Electroencephalographic Brainwaves for Assessment of Mental Involvement: A Systematic Review

    Ratio Indexes Based on Spectral Electroencephalographic Brainwaves for Assessment of Mental Involvement: A Systematic Review oleh Ilaria Marcantoni, Raffaella Assogna, Giulia Del Borrello, Marina Di Stefano, Martina Morano, Sofia Romagnoli, Chiara Leoni, Giulia Bruschi, Agnese Sbrollini, Micaela Morettini, Laura Burattini

    Diterbitkan 2023-06-01
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  5. 5
    Tenomodulin promotes human adipocyte differentiation and beneficial visceral adipose tissue expansion

    Tenomodulin promotes human adipocyte differentiation and beneficial visceral adipose tissue expansion oleh Ozlem Senol-Cosar, Rachel J. Roth Flach, Marina DiStefano, Anil Chawla, Sarah Nicoloro, Juerg Straubhaar, Olga T. Hardy, Hye Lim Noh, Jason K. Kim, Martin Wabitsch, Philipp E. Scherer, Michael P. Czech

    Diterbitkan 2016-02-01
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  6. 6
    Innovative Biomarkers for Obesity and Type 1 Diabetes Based on <i>Bifidobacterium</i> and Metabolomic Profiling

    Innovative Biomarkers for Obesity and Type 1 Diabetes Based on <i>Bifidobacterium</i> and Metabolomic Profiling oleh Angelica Nobili, Marco Pane, Mariya Skvortsova, Meryam Ben Salem, Stephan Morgenthaler, Emily Jamieson, Marina Di Stefano, Eirini Bathrellou, Eirini Mamalaki, Victoria Ramos-Garcia, Julia Kuligowski, Miltiadis Vasileiadis, Panagiotis Georgiadis, Marika Falcone, Paulo Refinetti

    Diterbitkan 2024-05-01
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  7. 7
    Children With Inflammatory Bowel Disease in the COVID-19 Main Endemic Focus: The Lombardy Experience

    Children With Inflammatory Bowel Disease in the COVID-19 Main Endemic Focus: The Lombardy Experience oleh Naire Sansotta, Lorenzo Norsa, Giovanna Zuin, Roberto Panceri, Dario Dilillo, Elena Pozzi, Costantino De Giacomo, Chiara Moretti, Rosaria Celano, Federica Nuti, Paola Sgaramella, Marina Di Stefano, Silvia Salvatore, Serena Arrigo, Valentina Motta, Lorenzo D'Antiga

    Diterbitkan 2021-04-01
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  8. 8
    P673: Batch ClinVar submission support in ClinGen’s Variant Curation Interface (VCI)

    P673: Batch ClinVar submission support in ClinGen’s Variant Curation Interface (VCI) oleh Matthew Wright, Christine Preston, Karen Dalton, Gloria Cheung, Mark Mandell, Bryan Wulf, Lawrence Babb, Marina DiStefano, Steven Harrison, Clarissa Klein, Rachel Shapira, Ingrid Keseler, Deborah Ritter, Neethu Shah, Kevin Riehle, Aleksandar Milosavljevic, Sharon Plon, Teri Klein

    Diterbitkan 2023-01-01
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  9. 9
    P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*

    P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies* oleh Marina DiStefano, Ryan Webb, Hannah McCurry, Shannon McNulty Gray, Swati Tomar, Prasad Kopparapu, Eleanor Broeren, Kezang Tshering, Alan Beggs, Enrico Silvio Bertini, Adele D'Amico, Sandra Donkervoort, James Dowling, Fabiana Fattori, Ana Ferreiro, Casie Genetti, Hernan Gonorazky, Svetlana Gorokhova, Amanda Lindy, Livija Medne, Sander Pajusalu, Katarina Pelin, John Rendu, Matteo Vatta, Tom Winder, Hui Yang, Grace Yoon, Ozge Ceyhan-Birsoy, Carsten Bönnemann

    Diterbitkan 2023-01-01
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  10. 10
    P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions

    P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions oleh Marina DiStefano, Joanna Amberger, Christina Austin-Tse, Marie Balzotti, Mutaz Amin, Jonathan Berg, Carol Bocchini, Elspeth Bruford, Fowzan Alkuraya, Alison Coffey, Heather Collins, Fiona Cunningham, Helen Firth, David Fitzpatrick, Yaron Einhorn, Jennifer Goldstein, Ada Hamosh, Sarah Leigh, Ivone Leong, Christa Martin, Ellen McDonagh, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, Jackie Tahiliani, James Ware, Eleanor Williams, Caroline Wright, Michael Yates, Phillip Weller, Heidi Rehm

    Diterbitkan 2023-01-01
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  11. 11
    P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*

    P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition* oleh Marina DiStefano, Fowzan Alkuraya, Joanna Amberger, Christina Austin-Tse, Ola Austine, Marie Balzotti, Jonathan Berg, Elspeth Bruford, Alicia Byrne, Elena Cibrian-Uhalte, Alison Coffey, Helen Firth, Ada Hamosh, Sarah Hunt, Teri Klein, Catherine Kurtz, Sarah Leigh, Ivone Leong, Caterina Lucano, Sateesh Maddirevula, Audrey O'Neill, Arina Puzriakova, Ana Rath, Angharad Roberts, Kelly Radtke, Erin Ramos, Erin Riggs, Charlotte Rodwell, Julie Taylor, Katrin Sangkuhl, Catherine Snow, Zornitza Stark, James Ware, Bess Wayburn, Phillip Weller, Heidi Rehm

    Diterbitkan 2024-01-01
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  12. 12
    ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines

    ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines oleh Christine G. Preston, Matt W. Wright, Rao Madhavrao, Steven M. Harrison, Jennifer L. Goldstein, Xi Luo, Hannah Wand, Bryan Wulf, Gloria Cheung, Mark E. Mandell, Howard Tong, Shaung Cheng, Michael A. Iacocca, Arturo Lopez Pineda, Alice B. Popejoy, Karen Dalton, Jimmy Zhen, Selina S. Dwight, Lawrence Babb, Marina DiStefano, Julianne M. O’Daniel, Kristy Lee, Erin R. Riggs, Diane B. Zastrow, Jessica L. Mester, Deborah I. Ritter, Ronak Y. Patel, Sai Lakshmi Subramanian, Aleksander Milosavljevic, Jonathan S. Berg, Heidi L. Rehm, Sharon E. Plon, J. Michael Cherry, Carlos D. Bustamante, Helio A. Costa, on behalf of the Clinical Genome Resource (ClinGen)

    Diterbitkan 2022-01-01
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  13. 13
    Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and Italian Society of Pediatric Neurology (SINP)

    Cyclic vomiting syndrome in children: a nationwide survey of current practice on behalf of the Italian Society of Pediatric Gastroenterology, Hepatology and Nutrition (SIGENP) and... oleh Sara Isoldi, Giovanni Di Nardo, Saverio Mallardo, Pasquale Parisi, Umberto Raucci, Renato Tambucci, Paolo Quitadamo, Silvia Salvatore, Enrico Felici, Fabio Cisarò, Licia Pensabene, Claudia Banzato, Caterina Strisciuglio, Claudio Romano, Patrizia Fusco, Francesca Rigotti, Naire Sansotta, Silvia Caimmi, Salvatore Savasta, Giovanna Zuin, Marina Di Stefano, Silvia Provera, Angelo Campanozzi, Paolo Rossi, Simona Gatti, Mara Corpino, Patrizia Alvisi, Stefano Martelossi, Agnese Suppiej, Paolo Gandullia, Alberto Verrotti, Gianluca Terrin, Caterina Pacenza, Fabiola Fornaroli, Donatella Comito, Stefano D’Arrigo, Pasquale Striano, Federico Raviglione, Marco Carotenuto, Alessandro Orsini, Vincenzo Belcastro, Giovanna Di Corcia, Vincenzo Raieli, Michela Ada Noris Ferilli, Claudia Ruscitto, Elisabetta Spadoni, Salvatore Grosso, Renato D’Alonzo, Amanda Papa, Piero Pavone, Mariaclaudia Meli, Mario Velardita, Martina Mainetti, Nicola Vanacore, Osvaldo Borrelli

    Diterbitkan 2022-08-01
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