检索结果 - Harsha Murthy

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    REEP5 depletion causes sarco-endoplasmic reticulum vacuolization and cardiac functional defects

    REEP5 depletion causes sarco-endoplasmic reticulum vacuolization and cardiac functional defects 由 Shin‐Haw Lee, Sina Hadipour‐Lakmehsari, Harsha Murthy, Natalie Gibb, Tetsuaki Miyake, Allen C. T. Teng, Jake Cosme, Jessica Yu, Mark Moon, Sang-Hyun Lim, Victoria Wong, Peter Liu, Filio Billia, Rodrigo Fernández‐González, Igor Štagljar, Parveen Sharma, Thomas Kislinger, Ian C. Scott, Anthony O. Gramolini

    出版 2020
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    Artigo
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    Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications

    Variants in <i>CLDN5</i> cause a syndrome characterized by seizures, microcephaly and brain calcifications 由 Ashish R. Deshwar, Cheryl Cytrynbaum, Harsha Murthy, Jessica Zon, David Chitayat, Jonathan Volpatti, Ruth Newbury‐Ecob, Sian Ellard, Hana Lango Allen, Emily Yu, Ramil R. Noche, Suzi Walker, Stephen W. Scherer, Sonal Mahida, Christopher M. Elitt, Gaël Nicolas, Alice Goldenberg, Pascale Saugier‐Veber, François Lecoquierre, Ivana Dabaj, Hannah Meddaugh, Michael Marble, Kim M. Keppler‐Noreuil, Lucy Drayson, Kristin Barañano, Anna Chassevent, Katie Agre, Pascaline Létard, Frédéric Bilan, Gwenaël Le Guyader, Annie Laquerrière, Keri Ramsey, Lindsay B. Henderson, Lauren Brady, Mark A. Tarnopolsky, Matthew N. Bainbridge, Jennifer Friedman, Yline Capri, Larissa Sampaio de Athayde, Fernando Kok, Juliana Gurgel‐Giannetti, Luiza Ramos, Susan Blaser, James J. Dowling, Rosanna Weksberg

    出版 2022
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    Artigo
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