Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7‐year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution
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Jackson, Gail C.
National Genetics Reference Laboratory, Manchester, United Kingdom
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Mittaz‐Crettol, Laureane
Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
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Taylor, Jacqueline A.
Wellcome Trust Centre for Cell Matrix Research, University of Manchester, Manchester, United Kingdom
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Mortier, Geert R.
Department of Medical Genetics, Antwerp University Hospital, Antwerp, Belgium
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Spranger, Juergen
Institute for Human Genetics and Center for Paediatrics and Adolescent Medicine, Freiburg, Germany
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Zabel, Bernhard
Institute for Human Genetics and Center for Paediatrics and Adolescent Medicine, Freiburg, Germany
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Le Merrer, Martine
Hôpital Necker‐Enfants Malades, Paris, France
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Cormier‐Daire, Valerie
Hôpital Necker‐Enfants Malades, Paris, France
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Hall, Christine M.
Great Ormond Street Hospital for Children, London, United Kingdom
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Offiah, Amaka
Sheffield Children's Hospital, Sheffield, United Kingdom
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Wright, Michael J.
Institute of Human Genetics, Newcastle‐upon‐Tyne, United Kingdom
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Savarirayan, Ravi
Murdoch Children's Research Institute, Genetic Health Services Victoria and Department of Paediatrics, University of Melbourne, Melbourne, Australia
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Nishimura, Gen
Department of Paediatric Imaging, Tokyo Metropolitan Children's Medical Centre, Japan
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Ramsden, Simon C.
National Genetics Reference Laboratory, Manchester, United Kingdom
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Elles, Rob
National Genetics Reference Laboratory, Manchester, United Kingdom
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Bonafe, Luisa
Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
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Superti‐Furga, Andrea
Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
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Unger, Sheila
Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
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Zankl, Andreas
Bone Dysplasia Research Group, University of Queensland Centre for Clinical Research, University of Queensland, Brisbane, Australia
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Briggs, Michael D.
Wellcome Trust Centre for Cell Matrix Research, University of Manchester, Manchester, United Kingdom
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Published in:
- Human Mutation. - Wiley. - 2011, vol. 33, no. 1, p. 144-157
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Language
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Open access status
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bronze
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Persistent URL
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https://sonar.ch/global/documents/46324
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