Search Results - Eric Haan
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What constitutes cerebral palsy? by Nadia Badawi, Linda Watson, Beverly Petterson, Eve Blair, Jennie Slee, Eric Haan, Fiona Stanley
Published 1998Revisão -
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Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes by Elizabeth Lobb, Phyllis Butow, Alexandra Barratt, Bettina Meiser, Clara Gaff, Mary‐Anne Young, Eric Haan, Graeme Suthers, Michael Gattas, Kathy Tucker
Published 2004Artigo -
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SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype by Gillian Spurlock, Ellen Bennett, Nadia Chuzhanova, N S Thomas, H-P. Jim, Lucy Side, Sophie Davies, Eric Haan, Bronwyn Kerr, Susan Huson, Meena Upadhyaya
Published 2009Artigo -
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A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia by 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
Published 2016Artigo -
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Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth by 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
Published 2014Artigo -
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CCDC22: a novel candidate gene for syndromic X-linked intellectual disability by 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
Published 2011Carta -
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Rare copy number variation in cerebral palsy by G. McMichael, Santhosh Girirajan, Andrés Moreno-De-Luca, Jozef Gécz, Chloé Shard, Lam Son Nguyen, Jillian Nicholl, Catherine Gibson, Eric Haan, Evan E. Eichler, Christa Lese Martin, Alastair H. MacLennan
Published 2013Artigo -
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Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation by 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
Published 2003Artigo -
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FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3 by 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
Published 2014Artigo -
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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families by 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
Published 2011Artigo
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