檢索結果 - Eric Haan
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What constitutes cerebral palsy? 由 Nadia Badawi, Linda Watson, Beverly Petterson, Eve Blair, Jennie Slee, Eric Haan, Fiona Stanley
出版 1998Revisão -
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A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia 由 Belinda Gray, Richard D. Bagnall, Lien Lam, Jodie Ingles, Christian Turner, Eric Haan, Andrew M. Davis, Pei‐Chi Yang, Colleen E. Clancy, Raymond W. Sy, Christopher Semsarian
出版 2016Artigo -
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Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth 由 Claire C. Homan, Raman Kumar, Lam Son Nguyen, Eric Haan, F. Lucy Raymond, Fatima Abidi, Martine Raynaud, Charles E. Schwartz, Stephen A. Wood, Jozef Gécz, Lachlan A. Jolly
出版 2014Artigo -
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CCDC22: a novel candidate gene for syndromic X-linked intellectual disability 由 Irina Voineagu, Lingli Huang, Kellen D. Winden, María T. Lázaro, Eric Haan, John W. Nelson, Julie McGaughran, Lam Son Nguyen, Kathryn Friend, Anna Hackett, Michael Field, Jozef Gécz, Daniel H. Geschwind
出版 2011Carta -
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Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation 由 Vera M. Kalscheuer, Jiong Tao, Andrew J. Donnelly, Georgina E. Hollway, E. Schwinger, Sabine Kübart, Corinna Menzel, Maria Hoeltzenbein, Niels Tommerup, Helen J. Eyre, Michael Harbord, Eric Haan, Grant R. Sutherland, Hans‐Hilger Ropers, Jozef Gécz
出版 2003Artigo -
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FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3 由 Sofie Metsu, Liesbeth Rooms, Jacqueline K. Rainger, Martin S. Taylor, Hemant Bengani, David I. Wilson, Chandra Sekhar Reddy Chilamakuri, Harris Morrison, Geert Vandeweyer, Edwin Reyniers, Evelyn Douglas, Geoffrey N. Thompson, Eric Haan, Jozef Gécz, David Fitzpatrick, R. Frank Kooy
出版 2014Artigo -
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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families 由 Elena Andreucci, Salim Aftimos, M.B. Alcausin, Eric Haan, Warwick Hunter, Pekka Kannus, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria Grazia Patricelli, David Sillence, Elizabeth Thompson, Margaret Zacharin, Andreas Zankl, Shireen R. Lamandé, Ravi Savarirayan
出版 2011Artigo
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