Browsing by Author Cormier-Daire, Valerie

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Issue DateTitleAuthor(s)Citation
2012IMPAD1 Mutations in Two Catel-Manzke Like PatientsSillence, David; Alanay, Yasemin; Cormier-Daire, Valerie; Genevieve, David; Huber, Celine; Kiper, Pelin; Munnich, Arnold; Nizon, Mathilde; Tuysuz, Beyhan; Children's Hospital Westmead: Paediatrics & Child HealthIMPAD1 Mutations in Two Catel-Manzke Like Patients, American Journal of Medical Genetics. Part A, vol.158A, 9, 2012,pp 2183-2187
2011Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrumCollins, Felicity; Baujat, Genevieve; Cavalcanti, Denise; Cormier-Daire, Valerie; Dagoneau, Nathalie; Delezoide, Anee-Lise; Huber, Celine; Le Merrer, Martine; Martinovic, Jelena; Mello, Marcos Fernando S; Munnich, Arnold; Sang, Kim-Hanh Le Quan; Vekemans, Michel; Children's Hospital Westmead: Paediatrics & Child HealthMutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum, Journal of Medical Genetics: an international peer-reviewed journal for health professionals and researchers in all areas of genetics, vol.48, 2, 2011,pp 88-92
2012NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer casesCollins, Felicity; Aziza, Jacqueline; Baujat, Genevieve; Bouvier, Raymonde; Cavalcanti, Denise; Cordier, Marie-Pierre; Cormier-Daire, Valerie; Couve, Adeline; Delezoide, Anee-Lise; Gonzales, Marie; Hokayem, Joyce; Huber, Celine; Johnson, Diana; LeMerrer, Martine; Levy-Mozziconacci, Annie; Loget, Philippe; Martin-Coignard, Dominique; Martinovic, Jelena; Mortier, Geert; Munnich, Arnold; Perez, Marie-Jose; Roume, Joelle; Scarano, Gioacchino; Children's Hospital Westmead: Paediatrics & Child HealthNEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases, Journal of Medical Genetics, vol.49, 4, 2012,pp 227-233
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