Resultados de procura - Marietta M. de Guzman

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  1. 1
    Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome

    Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome por M. Cecilia Poli, Frédéric Ebstein, Sarah K. Nicholas, Marietta M. de Guzman, Lisa R. Forbes, Iván K. Chinn, Emily M. Mace, Tiphanie P. Vogel, Alexandre F. Carisey, Felipe Benavides, Zeynep Coban‐Akdemir, Richard A. Gibbs, Shalini N. Jhangiani, Donna M. Muzny, Claudia M.B. Carvalho, Deborah Schady, Mahim Jain, Jill A. Rosenfeld, Lisa Emrick, Richard A. Lewis, Brendan Lee, Barbara A. Zieba, Sébastien Küry, Elke Krüger, James R. Lupski, Bret L. Bostwick, Jordan S. Orange

    Publicado 2018
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  2. 2
    Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)

    Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS) por Jonas Johannes Papendorf, Frédéric Ebstein, Sara Alehashemi, Daniela Gerent Petry Piotto, А. Л. Козлова, Maria Teresa Terreri, Anna Shcherbina, Andre Rastegar, Marta Cristine Félix Rodrigues, Renan Pereira, Sophia Park, Bin Lin, Kat Uss, Sophie Möller, Ana Flávia da Silva Pina, Flávio Sztajnbok, Sofia Torreggiani, Julie E. Niemela, Jennifer Stoddard, Sergio D. Rosenzweig, Andrew J. Oler, Colton McNinch, Marietta M. de Guzman, Adriana Rodrigues Fonseca, Nicole Micheloni, Melissa Mariti Fraga, Sandro Félix Perazzio, Raphaela Goldbach‐Mansky, Adriana A. de Jesus, Elke Krüger

    Publicado 2023
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