检索结果 - Lucas Bronicki

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  1. 1
    Emerging complexity of the HuD/ELAVl4 gene; implications for neuronal development, function, and dysfunction

    Emerging complexity of the HuD/ELAVl4 gene; implications for neuronal development, function, and dysfunction 由 Lucas Bronicki, Bernard J. Jasmin

    出版 2013
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    Revisão
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  2. 2
    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A

    Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A 由 Lucas Bronicki, Claire Redin, Séverine Drunat, Amélie Piton, Michael J. Lyons, Sandrine Passemard, Clarisse Baumann, Laurence Faivre, Julien Thévenon, Jean‐Baptiste Rivière, Bertrand Isidor, Grace Gan, Christine Francannet, Marjolaine Willems, Murat Günel, Julie R. Jones, Joseph G. Gleeson, Jean‐Louis Mandel, Roger E. Stevenson, Michael J. Friez, Arthur S. Aylsworth

    出版 2015
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    Artigo
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  3. 3
    Evidence-Based Assessment of Genes in Dilated Cardiomyopathy

    Evidence-Based Assessment of Genes in Dilated Cardiomyopathy 由 Elizabeth Jordan, Laiken Peterson, Tomohiko Ai, Babken Asatryan, Lucas Bronicki, Emily Brown, Rudy Celeghin, Matthew Edwards, Judy Fan, Jodie Ingles, Cynthia A. James, Olga Jarinova, Renée Johnson, Daniel P. Judge, Najim Lahrouchi, Ronald H. Lekanne Deprez, R. Thomas Lumbers, Francesco Mazzarotto, Argelia Medeiros‐Domingo, Rebecca L. Miller, Ana Morales, Brittney Murray, Stacey Peters, Kalliopi Pilichou, Alexandros Protonotarios, Christopher Semsarian, Palak Shah, Petros Syrris, Courtney Thaxton, J. Peter van Tintelen, Roddy Walsh, Jessica Wang, James S. Ware, Ray E. Hershberger

    出版 2021
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    Artigo
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  4. 4
    Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

    Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac condition... 由 Katherine Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew J. Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zaręba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E. Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia A. James, Elizabeth M. McNally, Daniel P. Judge, J. Peter van Tintelen, Arthur A.M. Wilde, Michael H. Gollob, Jodie Ingles, James S. Ware

    出版 2023
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    Artigo
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  5. 5
    Clinical Validity of Autosomal Dominant ALPK3 Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy

    Clinical Validity of Autosomal Dominant ALPK3 Loss-of-function Variants as a Cause of Hypertrophic Cardiomyopathy 由 Sophie Hespe, Emma S. Singer, Chloe M. Reuter, Brittney Murray, Elizabeth Jordan, Jessica L. Chowns, Stacey Peters, Megan Mayers, Belinda Gray, Ray E Hershberger, Anjali Owens, Christopher Semsarian, Amber Waddell, Babken Asatryan, Emma Owens, Courtney Thaxton, Mhy-Lanie Adduru, Kailyn Anderson, Emily Brown, Lily Hoffman‐Andrews, F. Stafford, Richard D. Bagnall, Lucas Bronicki, Bert Callewaert, C. Anwar A. Chahal, Cynthia A. James, Olga Jarinova, Andrew P. Landstrom, Elizabeth M. McNally, Laura Muiño Mosquera, Victoria N. Parikh, Roddy Walsh, Bess Wayburn, James S. Ware, Benjamin L. Parker, Enzo R. Porrello, David A. Elliott, James W. McNamara, Jodie Ingles

    出版 2025
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