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Impaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.
Albert, Jessica S; Bhattacharyya, Nisan; Wolfe, Lynne A; Bone, William P; Maduro, Valerie; Accardi, John; Adams, David R; Schwartz, Charles E; Norris, Joy; Wood, Tim; Gafni, Rachel I; Collins, Michael T; Tosi, Laura L; Markello, Thomas C; Gahl, William A; Boerkoel, Cornelius F.
Afiliación
  • Albert JS; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20814, USA. albertjs@mail.nih.gov.
  • Bhattacharyya N; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA. albertjs@mail.nih.gov.
  • Wolfe LA; Skeletal Clinical Studies Unit, Craniofacial and Skeletal Disease Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, 20892, USA. bhattacharyyan@nidcr.nih.gov.
  • Bone WP; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20814, USA. wolfela@mail.nih.gov.
  • Maduro V; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA. wolfela@mail.nih.gov.
  • Accardi J; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20814, USA. william.bone@nih.gov.
  • Adams DR; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20814, USA. vbraden@mail.nih.gov.
  • Schwartz CE; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20814, USA. ja434650@gmail.com.
  • Norris J; Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, 20814, USA. dadams1@mail.nih.gov.
  • Wood T; Medical Genetics Branch, National Human Genome Research Institute, Bethesda, MD, USA. dadams1@mail.nih.gov.
  • Gafni RI; J.C. Self Research Institute, Greenwood Genetics Centre, Greenwood, SC, 29646, USA. ceschwartz@ggc.org.
  • Collins MT; Skeletal Clinical Studies Unit, Craniofacial and Skeletal Disease Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, 20892, USA. jwnorris@ggc.org.
  • Tosi LL; J.C. Self Research Institute, Greenwood Genetics Centre, Greenwood, SC, 29646, USA. tim@ggc.org.
  • Markello TC; Skeletal Clinical Studies Unit, Craniofacial and Skeletal Disease Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, 20892, USA. gafnir@mail.nih.gov.
  • Gahl WA; Skeletal Clinical Studies Unit, Craniofacial and Skeletal Disease Branch, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, MD, 20892, USA. mc247k@nih.gov.
  • Boerkoel CF; George Washington University School of Medicine, Washington, DC, USA. LTOSI@childrensnational.org.
Orphanet J Rare Dis ; 10: 27, 2015 Mar 07.
Article en En | MEDLINE | ID: mdl-25888122
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteoblastos / Osteoclastos / Osteoporosis / Discapacidad Intelectual Ligada al Cromosoma X Tipo de estudio: Guideline / Prognostic_studies Límite: Humans / Male Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteoblastos / Osteoclastos / Osteoporosis / Discapacidad Intelectual Ligada al Cromosoma X Tipo de estudio: Guideline / Prognostic_studies Límite: Humans / Male Idioma: En Revista: Orphanet J Rare Dis Asunto de la revista: MEDICINA Año: 2015 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido