Hasil Pencarian - Anna Lehman

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  1. 1
    p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder

    p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder oleh Silke Appel-Cresswell, Ilaria Guella, Anna Lehman, Dean Foti, Matthew J. Farrer

    Diterbitkan 2018-01-01
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  2. 2
    Rare disorders have many faces: in silico characterization of rare disorder spectrum

    Rare disorders have many faces: in silico characterization of rare disorder spectrum oleh Simona D. Frederiksen, Vladimir Avramović, Tatiana Maroilley, Anna Lehman, Laura Arbour, Maja Tarailo-Graovac

    Diterbitkan 2022-02-01
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  3. 3
    Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes

    Beyond the Electrocardiogram: Mutations in Cardiac Ion Channel Genes Underlie Nonarrhythmic Phenotypes oleh Thomas M Roston, Taylor Cunningham, Anna Lehman, Zachary W Laksman, Andrew D Krahn, Shubhayan Sanatani

    Diterbitkan 2017-03-01
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  4. 4
    Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22)

    Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22) oleh Oguz K. Ozgoren, Glen Lester Sequiera, Costanza Ferrari Bardile, Sophia C. Gjervan, Areesha Salman, Anna Lehman, Stuart E. Turvey, Colin J.D. Ross, Sylvia Stockler, Mahmoud A. Pouladi

    Diterbitkan 2023-09-01
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  5. 5
    Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism

    Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism oleh Simran Samra, Mehul Sharma, Maryam Vaseghi-Shanjani, Kate L. Del Bel, Loryn Byres, Susan Lin, Joshua Dalmann, Areesha Salman, Jill Mwenifumbo, Bhavi P. Modi, Catherine M. Biggs, Cyrus Boelman, Lorne A. Clarke, Anna Lehman, Stuart E. Turvey

    Diterbitkan 2024-01-01
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  6. 6
    Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B)

    Consensus clinical management guidelines for acid sphingomyelinase deficiency (Niemann–Pick disease types A, B and A/B) oleh Tarekegn Geberhiwot, Melissa Wasserstein, Subadra Wanninayake, Shaun Christopher Bolton, Andrea Dardis, Anna Lehman, Olivier Lidove, Charlotte Dawson, Roberto Giugliani, Jackie Imrie, Justin Hopkin, James Green, Daniel de Vicente Corbeira, Shyam Madathil, Eugen Mengel, Fatih Ezgü, Magali Pettazzoni, Barbara Sjouke, Carla Hollak, Marie T. Vanier, Margaret McGovern, Edward Schuchman

    Diterbitkan 2023-04-01
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  7. 7
    A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation

    A Novel Germline Heterozygous BCL11B Variant Causing Severe Atopic Disease and Immune Dysregulation oleh Henry Y. Lu, Henry Y. Lu, Robert Sertori, Alejandra V. Contreras, Mark Hamer, Melina Messing, Melina Messing, Kate L. Del Bel, Elena Lopez-Rangel, Edmond S. Chan, Wingfield Rehmus, Joshua D. Milner, Kelly M. McNagny, Kelly M. McNagny, Anna Lehman, David L. Wiest, Stuart E. Turvey, Stuart E. Turvey

    Diterbitkan 2021-11-01
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  8. 8
    Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment

    Bi-allelic ATG4D variants are associated with a neurodevelopmental disorder characterized by speech and motor impairment oleh Marie Morimoto, Vikas Bhambhani, Nour Gazzaz, Mariska Davids, Paalini Sathiyaseelan, Ellen F. Macnamara, Jennifer Lange, Anna Lehman, Patricia M. Zerfas, Jennifer L. Murphy, Maria T. Acosta, Camille Wang, Emily Alderman, Undiagnosed Diseases Network, Sara Reichert, Audrey Thurm, David R. Adams, Wendy J. Introne, Sharon M. Gorski, Cornelius F. Boerkoel, William A. Gahl, Cynthia J. Tifft, May Christine V. Malicdan

    Diterbitkan 2023-02-01
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  9. 9
    KDM5A mutations identified in autism spectrum disorder using forward genetics

    KDM5A mutations identified in autism spectrum disorder using forward genetics oleh Lauretta El Hayek, Islam Oguz Tuncay, Nadine Nijem, Jamie Russell, Sara Ludwig, Kiran Kaur, Xiaohong Li, Priscilla Anderton, Miao Tang, Amanda Gerard, Anja Heinze, Pia Zacher, Hessa S Alsaif, Aboulfazl Rad, Kazem Hassanpour, Mohammad Reza Abbaszadegan, Camerun Washington, Barbara R DuPont, Raymond J Louie, CAUSES Study, Madeline Couse, Maha Faden, R Curtis Rogers, Rami Abou Jamra, Ellen R Elias, Reza Maroofian, Henry Houlden, Anna Lehman, Bruce Beutler, Maria H Chahrour

    Diterbitkan 2020-12-01
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  10. 10
    Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

    Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study oleh Alison M. Elliott, Shelin Adam, Christèle du Souich, Anna Lehman, Tanya N. Nelson, Clara van Karnebeek, Emily Alderman, Linlea Armstrong, Gudrun Aubertin, Katherine Blood, Cyrus Boelman, Cornelius Boerkoel, Karla Bretherick, Lindsay Brown, Chieko Chijiwa, Lorne Clarke, Madeline Couse, Susan Creighton, Abby Watts-Dickens, William T. Gibson, Harinder Gill, Maja Tarailo-Graovac, Sara Hamilton, Harindar Heran, Gabriella Horvath, Lijia Huang, Gurdip K. Hulait, David Koehn, Hyun Kyung Lee, Suzanne Lewis, Elena Lopez, Kristal Louie, Karen Niederhoffer, Allison Matthews, Kirsten Meagher, Junran J. Peng, Millan S. Patel, Simone Race, Phillip Richmond, Rosemarie Rupps, Ramona Salvarinova, Kimberly Seath, Kathryn Selby, Michelle Steinraths, Sylvia Stockler, Kaoru Tang, Christine Tyson, Margot van Allen, Wyeth Wasserman, Jill Mwenifumbo, Jan M. Friedman

    Diterbitkan 2022-07-01
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  11. 11
    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

    Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders oleh Madelyn A. Gillentine, Tianyun Wang, Kendra Hoekzema, Jill Rosenfeld, Pengfei Liu, Hui Guo, Chang N. Kim, Bert B. A. De Vries, Lisenka E. L. M. Vissers, Magnus Nordenskjold, Malin Kvarnung, Anna Lindstrand, Ann Nordgren, Jozef Gecz, Maria Iascone, Anna Cereda, Agnese Scatigno, Silvia Maitz, Ginevra Zanni, Enrico Bertini, Christiane Zweier, Sarah Schuhmann, Antje Wiesener, Micah Pepper, Heena Panjwani, Erin Torti, Farida Abid, Irina Anselm, Siddharth Srivastava, Paldeep Atwal, Carlos A. Bacino, Gifty Bhat, Katherine Cobian, Lynne M. Bird, Jennifer Friedman, Meredith S. Wright, Bert Callewaert, Florence Petit, Sophie Mathieu, Alexandra Afenjar, Celenie K. Christensen, Kerry M. White, Orly Elpeleg, Itai Berger, Edward J. Espineli, Christina Fagerberg, Charlotte Brasch-Andersen, Lars Kjærsgaard Hansen, Timothy Feyma, Susan Hughes, Isabelle Thiffault, Bonnie Sullivan, Shuang Yan, Kory Keller, Boris Keren, Cyril Mignot, Frank Kooy, Marije Meuwissen, Alice Basinger, Mary Kukolich, Meredith Philips, Lucia Ortega, Margaret Drummond-Borg, Mathilde Lauridsen, Kristina Sorensen, Anna Lehman, CAUSES Study, Elena Lopez-Rangel, Paul Levy, Davor Lessel, Timothy Lotze, Suneeta Madan-Khetarpal, Jessica Sebastian, Jodie Vento, Divya Vats, L. Manace Benman, Shane Mckee, Ghayda M. Mirzaa, Candace Muss, John Pappas, Hilde Peeters, Corrado Romano, Maurizio Elia, Ornella Galesi, Marleen E. H. Simon, Koen L. I. van Gassen, Kara Simpson, Robert Stratton, Sabeen Syed, Julien Thevenon, Irene Valenzuela Palafoll, Antonio Vitobello, Marie Bournez, Laurence Faivre, Kun Xia, SPARK Consortium, Rachel K. Earl, Tomasz Nowakowski, Raphael A. Bernier, Evan E. Eichler

    Diterbitkan 2021-04-01
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