Hasil Pencarian - Jorge L. Granadillo

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  1. 1
    Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant

    Placental pathology in an unsuspected case of mucolipidosis type II with secondary hyperparathyroidism in a premature infant oleh Parith Wongkittichote, Garland Michael Upchurch, Louis P. Dehner, Timothy Wood, Jorge L. Granadillo

    Diterbitkan 2021-06-01
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  2. 2
    Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW

    Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW oleh Jorge L. Granadillo, Timothy Moss, Richard A. Lewis, Elise G. Austin, Howard Kelfer, Jing Wang, Lee-Jun C. Wong, Fernando Scaglia

    Diterbitkan 2014-01-01
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  3. 3
    De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder

    De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder oleh Elizabeth A. Werren, Alba Guxholli, Natasha Jones, Matias Wagner, Iris Hannibal, Jorge L. Granadillo, Amanda V. Tyndall, Amanda Moccia, Ryan Kuehl, Kristin M. Levandoski, Debra L. Day-Salvatore, Marsha Wheeler, Jessica X. Chong, Michael J. Bamshad, A. Micheil Innes, Tyler Mark Pierson, Joel P. Mackay, Stephanie L. Bielas, Donna M. Martin

    Diterbitkan 2023-07-01
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  4. 4
    Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine

    Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine oleh Víctor Faundes, Martin D. Jennings, Siobhan Crilly, Sarah Legraie, Sarah E. Withers, Sara Cuvertino, Sally J. Davies, Andrew G. L. Douglas, Andrew E. Fry, Victoria Harrison, Jeanne Amiel, Daphné Lehalle, William G. Newman, Patricia Newkirk, Judith Ranells, Miranda Splitt, Laura A. Cross, Carol J. Saunders, Bonnie R. Sullivan, Jorge L. Granadillo, Christopher T. Gordon, Paul R. Kasher, Graham D. Pavitt, Siddharth Banka

    Diterbitkan 2021-02-01
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