Browsing by Author Mundlos, Stefan

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Issue DateTitleAuthor(s)Citation
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
2005A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders.Sillence, David; Abuzahra, Hilal; Barclay, Catherine; Bastepe, Murat; Chan, Catherine; Cole, William G.; Couper, Richard; DePalma, Steven R.; Gensure, Robert C.; Juppner, Harald; Kokko, Leena Ala; Makitie, Outi; Mundlos, Stefan; Seidman, J G; Children's Hospital Westmead: Paediatrics & Child HealthA novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders., Journal of Clinical Investigation, vol.115,(5),2005,pp 1250-1257