Hakutulokset - Morgan Similuk

Nature and nurture: understanding phenotypic variation in inborn errors of immunity Tekijä Morgan Similuk, Taco Kuijpers

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P469: Clinical relevance of mosaic variants detected from exome sequencing data Tekijä Rajarshi Ghosh, Andrew Oler, Mark Rustad, Samuel Li, Jia Yan, Morgan Similuk, Steven Holland, Magdalena Walkiewicz-Yvon

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Long-Read Sequencing as a Diagnostic Tool for Primary Ciliary Dyskinesia Tekijä Liora H. Feshbach, Morgan Similuk, Laura M. Amendola, Katie L. Lewis, Magdalena A. Walkiewicz, Mari Tokita, Rajarshi Ghosh, Andrew Lipton

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Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS) Tekijä Andrea Lisco, Chun-Shu Wong, Susan Price, Peiying Ye, Julie Niemela, Megan Anderson, Elizabeth Richards, Maura Manion, Harry Mystakelis, Morgan Similuk, Bernice Lo, Jennifer Stoddard, Sergio Rosenzweig, Christophe Vanpouille, Adam Rupert, Irina Maric, Ainhoa Perez-Diez, David Parenti, Peter D. Burbelo, V. Koneti Rao, Irini Sereti

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Deep Screening for X Chromosome Parent-of-Origin Effects on Neurobehavioral and Neuroanatomical Phenotypes in 47,XXY Klinefelter Syndrome Tekijä Isabella G. Larsen, Rachel Gore Moses, Bryce A. Seifert, Siyuan Liu, Samuel Li, Andrew J. Oler, Elizabeth Levitis, Lukas Schaffer, Rylee Duncan, Colleen Jodarski, Michael Kamen, Jia Yan, François M. Lalonde, Rajarshi Ghosh, Erin Torres, Liv S. Clasen, Jonathan Blumenthal, Morgan Similuk, Armin Raznahan, Magdalena A. Walkiewicz

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Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD-related activated PI3K delta syndro... Tekijä Halyn Orellana, Jia Yan, Alex Paul, Mari Tokita, Yan Ding, Rajarshi Ghosh, Katie L. Lewis, Joie Davis, Leila Jamal, Colleen Jodarski, Morgan Similuk, Nermina Saucier, Zhanyang Zhu, Yihe Wang, Sitao Wu, Jason Ruggieri, NIAID Centralized Sequencing Program Working Group, Helen C. Su, Gulbu Uzel, Shareef Nahas, Megan Cooper, Magdalena A. Walkiewicz, Bryce A. Seifert, Nadjalisse Reynolds-Lallement, Rachel Gore Moses, Michael Gore Moses, Sarah Bannon, Sophie Byers, Ekaterina Damskey, Sruthi Srinivasan, Adrienne Borges, Nicole Gentile

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