Risultati della ricerca - Marvin R. Natowicz

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  1. 1
    Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States.

    Public participation in medical policy-making and the status of consumer autonomy: the example of newborn-screening programs in the United States. di Elaine Hiller, Gretchen Landenburger, Marvin R. Natowicz

    Pubblicazione 1997
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  2. 2
    Metabolomic analysis of obesity, metabolic syndrome, and type 2 diabetes: amino acid and acylcarnitine levels change along a spectrum of metabolic wellness

    Metabolomic analysis of obesity, metabolic syndrome, and type 2 diabetes: amino acid and acylcarnitine levels change along a spectrum of metabolic wellness di Diane Libert, Amy S. Nowacki, Marvin R. Natowicz

    Pubblicazione 2018
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  3. 3
    Enzymatic identification of mannose 6-phosphate on the recognition marker for receptor-mediated pinocytosis of beta-glucuronidase by human fibroblasts.

    Enzymatic identification of mannose 6-phosphate on the recognition marker for receptor-mediated pinocytosis of beta-glucuronidase by human fibroblasts. di Marvin R. Natowicz, M M, O. H. Lowry, William S. Sly

    Pubblicazione 1979
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  4. 4
    Double outlet right ventricle: aetiologies and associations

    Double outlet right ventricle: aetiologies and associations di Dita Obler, Amy L. Juraszek, Leslie Smoot, Marvin R. Natowicz

    Pubblicazione 2008
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  5. 5
    Brain Transcriptional and Epigenetic Associations with Autism

    Brain Transcriptional and Epigenetic Associations with Autism di Matthew R. Ginsberg, Robert A. Rubin, Tatiana Falcone, Angela H. Ting, Marvin R. Natowicz

    Pubblicazione 2012
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  6. 6
    A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

    A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features di Georgios Kellaris, Kamal Khan, Shahid Mahmood Baig, I-Chun Tsai, Francisca Millan Zamora, Paul Ruggieri, Marvin R. Natowicz, Nicholas Katsanis

    Pubblicazione 2018
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  7. 7
    Proteomic Investigations of Autism Brain Identify Known and Novel Pathogenetic Processes

    Proteomic Investigations of Autism Brain Identify Known and Novel Pathogenetic Processes di Joseph R. Abraham, Nicholas Szoko, John Barnard, Robert A. Rubin, Daniela Schlatzer, Kathleen C. Lundberg, Xiaolin Li, Marvin R. Natowicz

    Pubblicazione 2019
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  8. 8
    Clinical and Biochemical Manifestations of Hyaluronidase Deficiency

    Clinical and Biochemical Manifestations of Hyaluronidase Deficiency di Marvin R. Natowicz, M. Priscilla Short, Yu Wang, G. Richard Dickersin, Mark C. Gebhardt, Daniel I. Rosenthal, Katherine B. Sims, Andrew E. Rosenberg

    Pubblicazione 1996
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  9. 9
    Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis

    Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis di Jacqueline R. Weissman, Richard I. Kelley, Margaret L. Bauman, Bruce H. Cohen, Katherine F. Murray, Rebecca L. Mitchell, Rebecca Kern, Marvin R. Natowicz

    Pubblicazione 2008
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  10. 10
    A Metabolomics Approach to Screening for Autism Risk in the Children's Autism Metabolome Project

    A Metabolomics Approach to Screening for Autism Risk in the Children's Autism Metabolome Project di Alan M. Smith, Marvin R. Natowicz, Daniel Braas, Michael A. Ludwig, Denise M. Ney, Elizabeth L.R. Donley, Robert E. Burrier, David G. Amaral

    Pubblicazione 2020
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  11. 11
    Screening for Carriers of Tay-Sachs Disease among Ashkenazi Jews

    Screening for Carriers of Tay-Sachs Disease among Ashkenazi Jews di Barbara L. Triggs‐Raine, Annette S. Feigenbaum, Marvin R. Natowicz, Marie‐Anne Skomorowski, Sheldon M. Schuster, Joe T.R. Clarke, Don J. Mahuran, Edwin H. Kolodny, Roy A. Gravel

    Pubblicazione 1990
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  12. 12
    Dravet syndrome patient‐derived neurons suggest a novel epilepsy mechanism

    Dravet syndrome patient‐derived neurons suggest a novel epilepsy mechanism di Yu Liu, Luis F. Lopez‐Santiago, Yukun Yuan, Julie Miller Jones, Baiyu Zhang, Heather A. O’Malley, Gustavo A. Patiño, Janelle E. O’Brien, Raffaella Rusconi, Ajay Gupta, Robert C. Thompson, Marvin R. Natowicz, Miriam H. Meisler, Lori L. Isom, Jack M. Parent

    Pubblicazione 2013
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  13. 13
    LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections

    LTBP3 Pathogenic Variants Predispose Individuals to Thoracic Aortic Aneurysms and Dissections di Dongchuan Guo, Ellen S. Regalado, Amélie Pinard, Jiyuan Chen, Kwanghyuk Lee, Christina Rigelsky, Lior Zilberberg, Ellen M. Hostetler, Micheala A. Aldred, Stephanie E Wallace, Siddharth K. Prakash, Suzanne M. Leal, Michael J. Bamshad, Deborah A. Nickerson, Marvin R. Natowicz, Daniel B. Rifkin, Dianna M. Milewicz

    Pubblicazione 2018
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  14. 14
    New NBIA subtype

    New NBIA subtype di Penelope Hogarth, Allison Gregory, Michael C. Kruer, Lynn Sanford, Wendy Wagoner, Marvin R. Natowicz, Robert T. Egel, S.H. Subramony, Jennifer G. Goldman, Elizabeth Berry‐Kravis, Nicola Foulds, Simon Hammans, Isabelle Desguerre, Diana Rodriguez, Callum Wilson, Andrea Diedrich, Sarah Green, Huong Tran, Lindsay C. Reese, Randall L. Woltjer, Susan J. Hayflick

    Pubblicazione 2012
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  15. 15
    Early Intervention for Children With Autism Spectrum Disorder Under 3 Years of Age: Recommendations for Practice and Research

    Early Intervention for Children With Autism Spectrum Disorder Under 3 Years of Age: Recommendations for Practice and Research di Lonnie Zwaigenbaum, Margaret L. Bauman, Roula Choueiri, Connie Kasari, Alice S. Carter, Doreen Granpeesheh, Zoe Mailloux, Susanne Smith Roley, Sheldon Wagner, Deborah Fein, Karen Pierce, Timothy Buie, Patricia A. Davis, Craig J. Newschaffer, Diana L. Robins, Amy M. Wetherby, Wendy L. Stone, Nurit Yirmiya, Annette Estes, Robin Hansen, James C. McPartland, Marvin R. Natowicz

    Pubblicazione 2015
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  16. 16
    Early Identification of Autism Spectrum Disorder: Recommendations for Practice and Research

    Early Identification of Autism Spectrum Disorder: Recommendations for Practice and Research di Lonnie Zwaigenbaum, Margaret L. Bauman, Wendy L. Stone, Nurit Yirmiya, Annette Estes, Robin Hansen, James C. McPartland, Marvin R. Natowicz, Roula Choueiri, Deborah Fein, Connie Kasari, Karen Pierce, Timothy Buie, Alice S. Carter, Patricia A. Davis, Doreen Granpeesheh, Zoe Mailloux, Craig J. Newschaffer, Diana L. Robins, Susanne Smith Roley, Sheldon Wagner, Amy M. Wetherby

    Pubblicazione 2015
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  17. 17
    Early Identification and Interventions for Autism Spectrum Disorder: Executive Summary

    Early Identification and Interventions for Autism Spectrum Disorder: Executive Summary di Lonnie Zwaigenbaum, Margaret L. Bauman, Roula Choueiri, Deborah Fein, Connie Kasari, Karen Pierce, Wendy L. Stone, Nurit Yirmiya, Annette Estes, Robin Hansen, James C. McPartland, Marvin R. Natowicz, Timothy Buie, Alice S. Carter, Patricia A. Davis, Doreen Granpeesheh, Zoe Mailloux, Craig J. Newschaffer, Diana L. Robins, Susanne Smith Roley, Sheldon Wagner, Amy M. Wetherby

    Pubblicazione 2015
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  18. 18
    Early Screening of Autism Spectrum Disorder: Recommendations for Practice and Research

    Early Screening of Autism Spectrum Disorder: Recommendations for Practice and Research di Lonnie Zwaigenbaum, Margaret L. Bauman, Deborah Fein, Karen Pierce, Timothy Buie, Patricia A. Davis, Craig J. Newschaffer, Diana L. Robins, Amy M. Wetherby, Roula Choueiri, Connie Kasari, Wendy L. Stone, Nurit Yirmiya, Annette Estes, Robin Hansen, James C. McPartland, Marvin R. Natowicz, Alice S. Carter, Doreen Granpeesheh, Zoe Mailloux, Susanne Smith Roley, Sheldon Wagner

    Pubblicazione 2015
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  19. 19
    Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings

    Adult polyglucosan body disease: Natural History and Key Magnetic Resonance Imaging Findings di Fanny Mochel, Raphael Schiffmann, Marjan E. Steenweg, Hasan O. Akman, Mary Wallace, Frédéric Sedel, Pascal Laforêt, Richard Lévy, James M. Powers, Sophie Demeret, Thierry Maisonobe, Roseline Froissart, Bruno Barcelos da Nóbrega, Brent L. Fogel, Marvin R. Natowicz, Catherine Lubetzki, Alexandra Dürr, Alexis Brice, Hanna Rosenmann, V. Barash, Or Kakhlon, John M. Gomori, Marjo S. van der Knaap, Alexander Lossos

    Pubblicazione 2012
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  20. 20
    Evaluation, Diagnosis, and Treatment of Gastrointestinal Disorders in Individuals With ASDs: A Consensus Report

    Evaluation, Diagnosis, and Treatment of Gastrointestinal Disorders in Individuals With ASDs: A Consensus Report di Timothy Buie, Jerry L. Campbell, George J. Fuchs, Glenn T. Furuta, Joseph Levy, Judy VandeWater, Agnes H. Whitaker, Dan Atkins, Margaret L. Bauman, Arthur L. Beaudet, Edward G. Carr, Michael D. Gershon, Susan Hyman, Pipop Jirapinyo, Harumi Jyonouchi, Koorosh Kooros, Rafail I. Kushak, Pat Levitt, Susan E. Levy, Jeffery D. Lewis, Katherine F. Murray, Marvin R. Natowicz, Aderbal Sabrá, Barry K. Wershil, Sharon Weston, Lonnie K. Zeltzer, Harland S. Winter

    Pubblicazione 2010
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