检索结果 - Rocio Moran

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  1. 1
    <i>NOD2</i>-associated autoinflammatory disease: a large cohort study

    <i>NOD2</i>-associated autoinflammatory disease: a large cohort study 由 Qingping Yao, Min Shen, Christine McDonald, Felicitas Lacbawan, Rocio Moran, Bo Shen

    出版 2015
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  2. 2
    Pregnancy and postpartum dynamics revealed by millions of lab tests

    Pregnancy and postpartum dynamics revealed by millions of lab tests 由 A. Bar, Rocio Moran, Netta Mendelson Cohen, Yael Korem Kohanim, Avi Mayo, Yoel Toledano, Uri Alon

    出版 2025
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  3. 3
    Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia

    Low yield of genetic testing for known vascular connective tissue disorders in patients with fibromuscular dysplasia 由 Stacey Poloskey, Esther Kim, Ruchi Sanghani, Adeeb Al‐Quthami, Patricia Arscott, Rocio Moran, Christina Rigelsky, Heather L. Gornik

    出版 2012
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  4. 4
    Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype

    Case series: 2q33.1 microdeletion syndrome--further delineation of the phenotype 由 Meena Balasubramanian, Kath Smith, Lina Basel‐Vanagaite, Murray Feingold, Pamela Brock, Gordon C. Gowans, Pradeep Vasudevan, Lara Cresswell, Emma‐Jane Taylor, Civonnia Harris, Neil Friedman, Rocio Moran, Holly Feret, Elaine H. Zackai, Aaron Theisen, Jill A. Rosenfeld, Michael Parker

    出版 2011
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  5. 5
    USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder

    USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder 由 Yi-Heng Hao, Michael D. Fountain, Klementina Fon Tacer, Fan Xia, Weimin Bi, Sung‐Hae Kang, Ankita Patel, Jill A. Rosenfeld, Cédric Le Caignec, Bertrand Isidor, Ian D. Krantz, Sarah E. Noon, Jean P. Pfotenhauer, Thomas M. Morgan, Rocio Moran, Robert C. Pedersen, Margarita Sáenz, Christian P. Schaaf, Patrick Ryan Potts

    出版 2015
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  6. 6
    <i>LOX</i> Mutations Predispose to Thoracic Aortic Aneurysms and Dissections

    <i>LOX</i> Mutations Predispose to Thoracic Aortic Aneurysms and Dissections 由 Dongchuan Guo, Ellen S. Regalado, Limin Gong, Xueyan Duan, Regie Lyn P. Santos‐Cortez, Pauline Arnaud, Zhao Ren, Bo Wen Cai, Ellen M. Hostetler, Rocio Moran, David Liang, Anthony L. Estrera, Hazim J. Safi, Suzanne M. Leal, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Guillaume Jondeau, Cathérine Boileau, Dianna M. Milewicz

    出版 2016
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  7. 7
    Aortic Disease Presentation and Outcome Associated With <i>ACTA2</i> Mutations

    Aortic Disease Presentation and Outcome Associated With <i>ACTA2</i> Mutations 由 Ellen S. Regalado, Dongchuan Guo, Siddharth K. Prakash, Tracy A Bensend, Kelly Flynn, Anthony L. Estrera, Hazim J. Safi, David Liang, James Hyland, Anne H. Child, Gavin Arno, Cathérine Boileau, Guillaume Jondeau, Alan C. Braverman, Rocio Moran, Takayuki Morisaki, Hiroko Morisaki, Reed E. Pyeritz, Joseph S. Coselli, Scott A. LeMaire, Dianna M. Milewicz

    出版 2015
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  8. 8
    MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms

    MAT2A Mutations Predispose Individuals to Thoracic Aortic Aneurysms 由 Dongchuan Guo, Limin Gong, Ellen S. Regalado, Regie Lyn P. Santos‐Cortez, Zhao Ren, Bo Wen Cai, Sudha Veeraraghavan, Siddharth K. Prakash, Ralph J. Johnson, Ann Muilenburg, Marcia Willing, Guillaume Jondeau, Cathérine Boileau, Hariyadarshi Pannu, Rocio Moran, Julie De Backer, Michael J. Bamshad, Jay Shendure, Deborah A. Nickerson, Suzanne M. Leal, C.S. Raman, Eric C. Swindell, Dianna M. Milewicz

    出版 2014
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  9. 9
    De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

    De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy 由 Jae-Ran Lee, Myriam Srour, Doyoun Kim, Fadi F. Hamdan, So-Hee Lim, Catherine Brunel‐Guitton, Jean-Claude Décarie, Elsa Rossignol, Grant A. Mitchell, Allison Schreiber, Rocio Moran, Keith Van Haren, Randal Richardson, Joost Nicolai, Karin Oberndorff, Justin D. Wagner, Kym M. Boycott, Elisa Rahikkala, Nella Junna, Henna Tyynismaa, Inge Cuppen, Nienke E. Verbeek, Connie T. R. M. Stumpel, Michèl A.A.P. Willemsen, Sonja A. de Munnik, Guy A. Rouleau, Eunjoon Kim, Erik-Jan Kamsteeg, Tjitske Kleefstra, Jacques L. Michaud

    出版 2014
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  10. 10
    Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

    Haploinsufficiency of<i>SOX5</i>at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features 由 Allen N. Lamb, Jill A. Rosenfeld, Nicholas J. Neill, Michael E. Talkowski, Ian Blumenthal, Santhosh Girirajan, Debra Keelean-Fuller, Zheng Fan, Jill Pouncey, Cathy A. Stevens, Loren Mackay-Loder, Deborah Terespolsky, Patricia I. Bader, Kenneth N. Rosenbaum, Stephanie E. Vallee, John B. Moeschler, Roger L. Ladda, Susan L. Sell, Judith A. Martin, S. Noyce Ryan, Marilyn C. Jones, Rocio Moran, Amy Shealy, Suneeta Madan‐Khetarpal, Juliann McConnell, Urvashi Surti, Andrée Delahaye‐Duriez, Bénédicte Héron‐Longe, Eva Pipiras, Brigitte Benzacken, Sandrine Passemard, Alain Verloès, Bertrand Isidor, Cédric Le Caignec, Gwen M. Glew, Kent E. Opheim, Maria Descartes, Evan E. Eichler, Cynthia C. Morton, James F. Gusella, Roger A. Schultz, Blake C. Ballif, Lisa G. Shaffer

    出版 2012
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  11. 11
    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies

    Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies 由 Michael D. Fountain, David S. Oleson, Megan Rech, Lara Segebrecht, Jill V. Hunter, John McCarthy, Philip J. Lupo, Manuel Holtgrewe, Rocio Moran, Jill A. Rosenfeld, Bertrand Isidor, Cédric Le Caignec, Margarita Sáenz, Robert C. Pedersen, Thomas M. Morgan, Jean P. Pfotenhauer, Fan Xia, Weimin Bi, Sung-Hae L. Kang, Ankita Patel, Ian D. Krantz, Sarah E. Raible, Wendy E. Smith, Ingrid Cristian, Erin Torti, Jane Juusola, Francisca Millan, Ingrid M. Wentzensen, Richard Person, Sébastien Küry, Stéphane Bézieau, Kévin Uguen, Claude Férec, Arnold Münnich, Mieke M. van Haelst, Klaske D. Lichtenbelt, Koen L.I. van Gassen, Tanner Hagelstrom, Aditi Chawla, Denise Perry, Ryan J. Taft, Marilyn C. Jones, Diane Masser‐Frye, David A. Dyment, Sunita Venkateswaran, Chumei Li, Luis Escobar, Denise Horn, Rebecca C. Spillmann, Loren D.M. Peña, Jolanta Wierzba, Tim M. Strom, Ilaria Parenti, Frank J. Kaiser, Nadja Ehmke, Christian P. Schaaf

    出版 2019
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  12. 12
    Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy

    Toward Genetics-Driven Early Intervention in Dilated Cardiomyopathy 由 Daniel D. Kinnamon, Ana Morales, Deborah J. Bowen, Wylie Burke, Ray E. Hershberger, Ray E. Hershberger, Daniel D. Kinnamon, Ana Morales, Julie M. Gastier‐Foster, Wylie Burke, Deborah J. Bowen, Deborah A. Nickerson, Michael O. Dorschner, Garrie J. Haas, William T. Abraham, Philip F. Binkley, Ayesha Hasan, Jennifer Host, Brent C. Lampert, Sakima A. Smith, Gordon S. Huggins, David DeNofrio, Michael S. Kiernan, Daniel Fishbein, Richard K. Cheng, Todd Dardas, Wayne C. Levy, Claudius Mahr, Sofia Carolina Masri, April Stempien‐Otero, Stephen S. Gottlieb, Matthew T. Wheeler, Euan A. Ashley, Julia Platt, Mark Hofmeyer, W.H. Wilson Tang, Randall Starling, Rocio Moran, Anjali Owens, Kenneth Marguilies, Thomas P. Cappola, Lee R. Goldberg, Susan C. Brozena, J. Eduardo Rame, Rhondalyn C. McLean, Charles K. Moore, Matthew deShazo, Robert C. Long, Francisco Jimenez Carcamo, Hakop Hrachian-Haftevani, Barry Trachtenberg, G. Ashrith, Arvind Bhimarahj, Jerry D. Estep, Nancy K. Sweitzer, Carlos D. Bustamante, Gail P. Jarvik, Eden R. Martin, Heidi L. Rehm, Patrice Desvigne‐Nickens, James Troendle, Yi‐Ping Fu, Lucia A. Hindorff

    出版 2017
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