検索結果 - M. Pilar Trelles

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  1. 1
    Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome

    Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome 著者: Latha Soorya, Jill Leon, M. Pilar Trelles, Audrey Thurm

    出版事項 2017
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    Revisão
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  2. 2
    Loop Gating of Connexin Hemichannels Involves Movement of Pore-lining Residues in the First Extracellular Loop Domain

    Loop Gating of Connexin Hemichannels Involves Movement of Pore-lining Residues in the First Extracellular Loop Domain 著者: Vytas K. Verselis, M. Pilar Trelles, Clio Rubiños, Thaddeus A. Bargiello, Miduturu Srinivas

    出版事項 2008
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    Artigo
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  3. 3
    Psychiatric illness and regression in individuals with Phelan-McDermid syndrome

    Psychiatric illness and regression in individuals with Phelan-McDermid syndrome 著者: Teresa M. Kohlenberg, M. Pilar Trelles, Brittany McLarney, Catalina Betancur, Audrey Thurm, Alexander Kolevzon

    出版事項 2020
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    Artigo
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  4. 4
    Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome

    Clinical trial of insulin-like growth factor-1 in Phelan-McDermid syndrome 著者: Alexander Kolevzon, Michael S. Breen, Paige M. Siper, Danielle Halpern, Yitzchak Frank, Hillary Rieger, J. Weismann, M. Pilar Trelles, Bonnie Lerman, Robert Rapaport, Joseph D. Buxbaum

    出版事項 2022
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    Carta
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  5. 5
    Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

    Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations 著者: Silvia De Rubeis, Paige M. Siper, Allison Durkin, Jordana Weissman, François Muratet, Danielle Halpern, M. Pilar Trelles, Yitzchak Frank, Reymundo Lozano, A. Ting Wang, J. Lloyd Holder, Catalina Betancur, Joseph D. Buxbaum, Alexander Kolevzon

    出版事項 2018
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    Artigo
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  6. 6
    Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations

    Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations 著者: Marina Natividad Avila, Seulgi Jung, F. Kyle Satterstrom, Jack Fu, Tess Levy, Laura Sloofman, Lambertus Klei, Thariana Pichardo, Christine Stevens, Caroline Cusick, Jennifer Ames, Gabriele da Silva Campos, Hilda J Cerros, Roberto Chaskel, Claudia Ismania Samogy Costa, Michael L. Cuccaro, Andrea López, Magdalena Fernández, Eugenio Ferro, Liliana Galeano, Ana Cristina De Sanctis Girardi, Anthony J. Griswold, Luis C. Hernandez, Naila Cristina Vilaça Lourenço, Yunin Ludeña, Diana Núñez, Ryan K. Oyama, Katherine Peña, Isaac N. Pessah, Rebecca J. Schmidt, Holly Morsbach Sweeney, Lizbeth Tolentino, Jaqueline Y. T. Wang, Lilia Albores‐Gallo, Lisa Croen, Carlos Cruz-Fuentes, Irva Hertz‐Picciotto, Alexander Kolevzon, María Claudia Lattig, Liliana Mayo, Maria Rita Passos-Bueno, Margaret A. Pericak‐Vance, Paige M. Siper, Flora Tassone, M. Pilar Trelles, Michael E. Talkowski, Mark J. Daly, Behrang Mahjani, Silvia De Rubeis, Edwin H. Cook, Kathryn Roeder, Catalina Betancur, Bernie Devlin, Joseph D. Buxbaum

    出版事項 2025
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