Hasil Pencarian - Michael Talkowski

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  1. 1
    Lack of association between VNTR polymorphism of dopamine transporter gene (SLC6A3) and schizophrenia in a Brazilian sample Ausência de associação entre o polimorfismo VNTR do gene do transportador de dopamina (SLC6A3) e esquizofrenia em uma população brasileira

    Lack of association between VNTR polymorphism of dopamine transporter gene (SLC6A3) and schizophrenia in a Brazilian sample Ausência de associação entre o polimorfismo VNTR do gene... oleh Quirino Cordeiro, Michael Talkowski, Joel Wood, Eliza Ikenaga, Homero Vallada

    Diterbitkan 2004-12-01
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  2. 2
    TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling

    TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling oleh Pauline Martin, Vilas Wagh, Surya A. Reis, Serkan Erdin, Roberta L. Beauchamp, Ghalib Shaikh, Michael Talkowski, Elizabeth Thiele, Steven D. Sheridan, Stephen J. Haggarty, Vijaya Ramesh

    Diterbitkan 2020-01-01
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  3. 3
    O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chromosomes*

    O34: Application of long-read sequencing and telomere-to-telomere genome assembly unveils complex rearrangements and cryptic breakpoints of Robertsonian translocation and ring chro... oleh Fabiola Quintero-Rivera, Yulia Mostovoy, Philip Boone, Steve Huang, Kiran Garimella, Julian Martinez-Agosto, Bianca Russell, Tera Bowers, Tim De Smet, Stacey Gabriel, James Gusella, Harrison Brand, Michael Talkowski

    Diterbitkan 2023-01-01
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  4. 4
    O39: Comprehensive, high-resolution, and non-invasive prenatal screening of coding variation*

    O39: Comprehensive, high-resolution, and non-invasive prenatal screening of coding variation* oleh Michael Duyzend, Harrison Brand, Christopher Whelan, John Lemanski, Monica Salani, Stephanie Hao, Isaac Wong, Elise Valkanas, Caroline Cusick, Lori Dobson, Courtney Studwell, Kathleen Gianforcaro, Stephanie Guseh, Benjamin Currall, Kathryn Gray, Michael Talkowski

    Diterbitkan 2023-01-01
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  5. 5
    Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals

    Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals oleh Ludovica Montanucci, David Lewis-Smith, Ryan L. Collins, Lisa-Marie Niestroj, Shridhar Parthasarathy, Julie Xian, Shiva Ganesan, Marie Macnee, Tobias Brünger, Rhys H. Thomas, Michael Talkowski, Epi25 Collaborative, Ingo Helbig, Costin Leu, Dennis Lal

    Diterbitkan 2023-07-01
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  6. 6
    Functional annotation of rare structural variation in the human brain

    Functional annotation of rare structural variation in the human brain oleh Lide Han, Xuefang Zhao, Mary Lauren Benton, Thaneer Perumal, Ryan L. Collins, Gabriel E. Hoffman, Jessica S. Johnson, Laura Sloofman, Harold Z. Wang, Matthew R. Stone, CommonMind Consortium, Kristen J. Brennand, Harrison Brand, Solveig K. Sieberts, Stefano Marenco, Mette A. Peters, Barbara K. Lipska, Panos Roussos, John A. Capra, Michael Talkowski, Douglas M. Ruderfer

    Diterbitkan 2020-06-01
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  7. 7
    O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)

    O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD) oleh Harrison Brand, Xuefang Zhao, Jack Fu, Ryan Collins, Isaac Wong, Cal Liao, Lily Wang, Samantha Baxter, Matthew Solomonson, Philip Darnowsky, Sinéad Chapman, Christine Stevens, Caroline Cusick, Alba Sanchis-Juan, Mark Walker, Nehir Kurtas, Katherine Chao, Stacey Gabriel, Eric Banks, Anne O’Donnell-Luria, Daniel MacArthur, Heidi Rehm, Benjamin Neale, Mark Daly, Kaitlin Samocha, Konrad Karczewski, Michael Talkowski

    Diterbitkan 2024-01-01
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  8. 8
    O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function

    O43: Analysis of >800,000 diverse sequenced humans in gnomAD improves clinical interpretation and provides insight into gene function oleh Heidi Rehm, Julia Goodrich, Katherine Chao, Kristen Laricchia, Michael Wilson, Jack Fu, Grace Tiao, Qin He, Daniel Marten, Timothy Poterba, Christopher Vittal, Siwei Chen, Wenhan Lu, Samantha Baxter, Sinéad Chapman, Caroline Cusick, Philip Darnowsky, Laura Gauthier, Leonhard Gruenschloss, Riley Grant, Stephen Jahl, Matthew Solomonson, Christine Stevens, Daniel MacArthur, Michael Talkowski, Benjamin Neale, Anne O'Donnell-Luria, Kaitlin Samocha, Konrad Karczewski, Mark Daly

    Diterbitkan 2024-01-01
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  9. 9
    P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease*

    P575: The Rare Genomes Project: Improving access to genomic sequencing and identifying causes of rare disease* oleh Christina Austin-Tse, Stephanie DiTroia, Melanie O'Leary, Grace VanNoy, Brian Mangilog, Gulalai Shah, Eva Martinez, Jillian Serrano, Lynn Pais, Emily O'Heir, Ikeoluwa Osei-Owusu, Gabrielle Lemire, Vijay Ganesh, Sarah Stenton, Mutaz Amin, Kayla Socarras, Mugdha Singh, Stacey Hall, Katie Larsson, Moriel Singer-Berk, Daniel Marten, Michael Wilson, Hana Snow, Benjamin Blankenmeister, Jialan Ma, Ben Weisburd, Alba Sanchis-Juan, Harrison Brand, Emily Groopman, Alysia Lovgren, Clara Williamson, Marissa Hollyer, Eleina England, Eleanor Seaby, Katherine Chao, Julia Goodrich, Samantha Baxter, Daniel MacArthur, Michael Talkowski, Monica Wojcik, Anne O'Donnell-Luria, Heidi Rehm

    Diterbitkan 2024-01-01
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  10. 10
    P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*

    P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies* oleh Philip Boone, Kamli Faour, Kiana Mohajeri, John Lemanski, Bimal Jana, Jack Fu, Jennifer Kerkhof, Haley McConkey, Ryan Collins, Diane Lucente, Celine de Esch, Mariana Moysés-Oliveira, Alexander Nuttle, Aloysius Domingo, Serkan Erdin, Maris Hanley, Amy Watt, Eric Surette, Gloria Lima, Laura Smith, Monica Salani, Rachita Yadav, Ricardo Harripaul, Kathryn O’Keefe, Nicholas Burt, Matthew Larson, Riya Bhavsar, Benjamin Currall, Susan Sell, Roger Ladda, LaDonna Immken, Catherine Buchanan, Bo Yuan, Sally Lynch, Christian Gilissen, Rolph Pfundt, Charlotte Ockeloen, Tjitske Kleefstra, Els Vanhoutte, Margje Sinnema, Sander Stegmann, Servi Stevens, Maria Iascone, Silvia Maitz, Benjamin Cogne, Cedric Le Caignec, Marie Vincent, Mathilde Nizon, Alison Male, Pankaj Agrawal, Michelle Thompson, Pernille Torring, Charlotte Brasch-Andersen, Laurence Faivre, Ange-Line Bruel, Bertrand Isidor, Christophe Philippe, Manuela Morleo, Monica Wojcik, Casie Genetti, Siddharth Srivastava, Sonia Ballal, Sophia Schließke, Rami Abou Jamra, Andree Delahaye, Lydia von Wintzingerode, Viktoria Bothe, Marine Houlier, Timothy Stout, Gaber Bergant, Borut Peterlin, Oana Moldovan, Núria Martínez-Gil, Emanuela Argilli, Elliott Sherr, Tamar Harel, Hallel Rosenberg-Fogler, Jill Rosenfeld, Ingrid Wentzensen, Dominik Westphal, Korbinian Riedhammer, Laura Orec, James Gusella, Bekim Sadikovic, Derek Tai, Michael Talkowski

    Diterbitkan 2023-01-01
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