Browsing by Author Nishimura, Gen

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Issue DateTitleAuthor(s)Citation
2012Disease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severityCollins, Felicity; Alanay, Yasemin; Bijlsma, Emilia; Cho, Tae-Joon; Cole, Trevor; Daniel, Philip; David, Albert; Devriendt, Koen; et al, various; Faivre, Laurence; Ikegawa, Shiro; Jacquemont, Sebastien; Jesic, Milos; Krakow, Debbie; Liebrecht, Daniela; Maitz, Silvia; Marlin, Sandrine; Morgan, Timothy; Morin, Gilles; Nishikubo, Toshiya; Nishimura, Gen; Prescott, Trine; Scarano, Gioacchino; Shafeghati, Yousef; Skovby, Flemming; Children's Hospital Westmead: Paediatrics & Child HealthDisease-associated mutations in the actin-binding domain of filamin B cause cytoplasmic focal accumulations correlating with disease severity, Human Mutation, vol.33, 4, 2012,pp 665-673
2011Nosology and Classification of Genetic Skeletal Disorders: 2010 RevisionSillence, David; Cormier-Daire, Valerie; et al, various; Hall, Christine; Krakow, Debbie; Lachman, Ralph; LeMerrer, Martine; Mortier, Geert; Mundlos, Stefan; Nishimura, Gen; Warman, Matthew; Children's Hospital Westmead: Paediatrics & Child HealthNosology and Classification of Genetic Skeletal Disorders: 2010 Revision, American Journal of Medical Genetics. Part A, vol.155A, 5, 2011,pp 943-968
2015Nosology and classification of genetic skeletal disorders: 2015 revisionSillence, David; Bonafe, Luisa; Cormier-Daire, Valerie; et al, Various; Hall, Christine; Lachman, Ralph; Mortier, Geert; Mundlos, Stefan; Nishimura, Gen; Sangiorgi, Luca; Savarirayan, Ravi; Childrens Hospital Westmead: Paediatrics & Child HealthNosology and classification of genetic skeletal disorders: 2015 revision, American Journal of Medical Genetics. Part A, vol.167, 12, 2015,pp 2869-2892