Resultados da busca - Jessica Duis

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  1. 1
    Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches

    Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches por Merlin G. Butler, Jessica Duis

    Publicado em 2020
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  2. 2
    Therapies in preclinical and clinical development for Angelman syndrome

    Therapies in preclinical and clinical development for Angelman syndrome por Theodora Markati, Jessica Duis, Laurent Servais

    Publicado em 2021
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  3. 3
    A Primer on a Comprehensive Genetic Approach to Vascular Anomalies

    A Primer on a Comprehensive Genetic Approach to Vascular Anomalies por Alexandra J. Borst, Taizo A. Nakano, Francine Blei, Denise M. Adams, Jessica Duis

    Publicado em 2020
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  4. 4
    A multidisciplinary approach to the clinical management of Prader–Willi syndrome

    A multidisciplinary approach to the clinical management of Prader–Willi syndrome por Jessica Duis, Pieter Joost van Wattum, Ann Scheimann, Parisa Salehi, Elly Brokamp, Laura Fairbrother, Anna K. Childers, Althea Robinson Shelton, Nathan C. Bingham, Ashley H. Shoemaker, Jennifer L. Miller

    Publicado em 2019
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  5. 5
    <i>KIF5A</i> mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

    <i>KIF5A</i> mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction por Jessica Duis, Shannon L. Dean, Carolyn Applegate, Amy Harper, Rui Xiao, Weimin He, James D. Dollar, Lisa R. Sun, Marta Biderman Waberski, Thomas O. Crawford, Ada Hamosh, Carl E. Stafstrom

    Publicado em 2016
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  6. 6
    Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium

    Behavioral features in Prader-Willi syndrome (PWS): consensus paper from the International PWS Clinical Trial Consortium por Lauren Schwartz, Assumpta Caixàs, Anastasia Dimitropoulos, Elisabeth M. Dykens, Jessica Duis, Stewart Einfeld, Louise Gallagher, Anthony Holland, Lauren Rice, Elizabeth Roof, Parisa Salehi, Theresa V. Strong, Bonnie P. Taylor, Kate Woodcock

    Publicado em 2021
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  7. 7
    Diagnosis and management of sleep disorders in Prader-Willi syndrome

    Diagnosis and management of sleep disorders in Prader-Willi syndrome por Jessica Duis, Lara C. Pullen, Maria Picone, Norman R. Friedman, Stephen Hawkins, Elise M. Sannar, Anna C. Pfalzer, Althea Robinson Shelton, Deepan Singh, Phyllis C. Zee, Daniel G. Glaze, Amee Revana

    Publicado em 2022
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  8. 8
    Limitations of exome sequencing in detecting rare and undiagnosed diseases

    Limitations of exome sequencing in detecting rare and undiagnosed diseases por Kendall J. Burdick, Joy D. Cogan, Lynette Rives, Amy K. Robertson, Mary Koziura, Elly Brokamp, Laura Duncan, Vickie Hannig, Jean P. Pfotenhauer, Rena Vanzo, Michael S. Paul, Anna Bican, Thomas M. Morgan, Jessica Duis, John H. Newman, Rizwan Hamid, John A. Phillips

    Publicado em 2020
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  9. 9
    A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome

    A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome por Jessica Duis, Mark Nespeca, J Summers, Lynne M. Bird, Karen Bindels‐de Heus, Marlies J. Valstar, Marie‐Claire Y. de Wit, Cindy Navis, Maartje ten Hooven‐Radstaake, Bianca M. van Iperen‐Kolk, Susan Ernst, Melina Dendrinos, Terry Katz, Gloria Diaz‐Medina, Akshat Katyayan, Srishti Nangia, Ronald L. Thibert, Daniel G. Glaze, Christopher J. Keary, Karine Pelc, Nicole Simon, Anjali Sadhwani, Helen Heussler, Anne Wheeler, Caroline Woeber, Margaret DeRamus, Amy Thomas, Emily F. Kertcher, Lauren DeValk, Kristen Kalemeris, Kara Arps, Carol Baym, Nicole Harris, John P. Gorham, Brenda L. Bohnsack, Reid Chambers, Sarah Harris, Henry G. Chambers, Katherine C. Okoniewski, Elizabeth Jalazo, Allyson Berent, Carlos A. Bacino, Charles A. Williams, Anne E. Anderson

    Publicado em 2022
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  10. 10
    Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

    Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations por Seema R. Lalani, Pengfei Liu, Jill A. Rosenfeld, Levi B. Watkin, Theodore Chiang, Magalie S. Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini, Christina Y. Miyake, Marwan Shinawi, Tomasz Gambin, Mohammad K. Eldomery, Zeynep H. Coban Akdemir, Lisa Emrick, Yael Wilnai, Susan Schelley, Mary Kay Koenig, Nada Memon, Laura S. Farach, Bradley P. Coe, Mahshid S. Azamian, Patricia Hernandez, Gladys Zapata, Shalini N. Jhangiani, Donna M. Muzny, Timothy Lotze, Gary Clark, Angus A. Wilfong, Hope Northrup, Adekunle M. Adesina, Carlos A. Bacino, Fernando Scaglia, Penelope E. Bonnen, Jane E. Crosson, Jessica Duis, Gustavo Maegawa, David Coman, Anita Inwood, Jim McGill, Eric Boerwinkle, Brett H. Graham, Art Beaudet, Christine M. Eng, Neil A. Hanchard, Fan Xia, Jordan S. Orange, Richard A. Gibbs, James R. Lupski, Yaping Yang

    Publicado em 2016
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