Výsledky vyhledávání - Eric Haan
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What constitutes cerebral palsy? Autor Nadia Badawi, Linda Watson, Beverly Petterson, Eve Blair, Jennie Slee, Eric Haan, Fiona Stanley
Vydáno 1998Revisão -
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Communication and information-giving in high-risk breast cancer consultations: influence on patient outcomes Autor Elizabeth Lobb, Phyllis Butow, Alexandra Barratt, Bettina Meiser, Clara Gaff, Mary‐Anne Young, Eric Haan, Graeme Suthers, Michael Gattas, Kathy Tucker
Vydáno 2004Artigo -
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SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype Autor Gillian Spurlock, Ellen Bennett, Nadia Chuzhanova, N S Thomas, H-P. Jim, Lucy Side, Sophie Davies, Eric Haan, Bronwyn Kerr, Susan Huson, Meena Upadhyaya
Vydáno 2009Artigo -
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A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia Autor 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
Vydáno 2016Artigo -
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Mutations in USP9X Are Associated with X-Linked Intellectual Disability and Disrupt Neuronal Cell Migration and Growth Autor 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
Vydáno 2014Artigo -
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CCDC22: a novel candidate gene for syndromic X-linked intellectual disability Autor 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
Vydáno 2011Carta -
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Rare copy number variation in cerebral palsy Autor 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
Vydáno 2013Artigo -
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Disruption of the Serine/Threonine Kinase 9 Gene Causes Severe X-Linked Infantile Spasms and Mental Retardation Autor 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
Vydáno 2003Artigo -
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FRA2A Is a CGG Repeat Expansion Associated with Silencing of AFF3 Autor 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
Vydáno 2014Artigo -
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TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families Autor 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
Vydáno 2011Artigo
Vyhledávací nástroje:
Související témata
Biology
Genetics
Gene
Medicine
Mutation
Phenotype
Internal medicine
Psychology
Psychiatry
Disease
Neuroscience
Missense mutation
Genotype
Intellectual disability
Pathology
Epilepsy
Pediatrics
Environmental health
Dementia
Exome sequencing
Population
Pregnancy
Autism
Bioinformatics
Breast cancer
Cancer
Candidate gene
Exon
Frontotemporal dementia
Gene expression