检索结果 - Maimoona A. Zariwala
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Primary Ciliary Dyskinesia 由 Michael R. Knowles, Maimoona A. Zariwala, Margaret W. Leigh
出版 2016Revisão -
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Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing 由 Jonathan S. Berg, James P. Evans, Margaret W. Leigh, Heymut Omran, Chris Bizon, Ketan K. Mane, Michael R. Knowles, Karen E. Weck, Maimoona A. Zariwala
出版 2011Artigo -
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The expanding phenotype of <i>OFD1</i>‐related disorders: Hemizygous loss‐of‐function variants in three patients with primary ciliary dyskinesia 由 William B. Hannah, Suzanne D. DeBrosse, BreAnna Kinghorn, Steven Strausbaugh, Moira L. Aitken, Margaret Rosenfeld, Whitney Wolf, Michael R. Knowles, Maimoona A. Zariwala
出版 2019Revisão -
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Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia 由 Christian R. Marshall, Stephen W. Scherer, Maimoona A. Zariwala, Lynette Lau, Tara Paton, Tracy Stockley, Rebekah Jobling, Peter N. Ray, Michael R. Knowles, David A. Hall, Sharon Dell, Raymond H. Kim
出版 2015Artigo -
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Founder Mutation in<i>RSPH4A</i>Identified in Patients of Hispanic Descent with Primary Ciliary Dyskinesia 由 M. Leigh Anne Daniels, Margaret W. Leigh, Stephanie D. Davis, Michael C. Armstrong, Johnny L. Carson, Milan J. Hazucha, Sharon Dell, Maria J. Eriksson, Francis S. Collins, Michael R. Knowles, Maimoona A. Zariwala
出版 2013Artigo -
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Recurring large deletion in <i>DRC1</i> (<i>CCDC164</i>) identified as causing primary ciliary dyskinesia in two Asian patients 由 Kozo Morimoto, Minako Hijikata, Maimoona A. Zariwala, Keith Nykamp, Atsushi Inaba, Tz-Chun Guo, Hiroyuki Yamada, Rebecca Truty, Yuka Sasaki, Ken Ohta, Shoji Kudoh, Margaret W. Leigh, Michael R. Knowles, Naoto Keicho
出版 2019Artigo
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