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Ravi Savarirayan

Showing results (41-50 of 186) with videos related to

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American Journal of Medical Genetics. Part A|August 5, 2010
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7Zornitza Stark, Monique M Ryan, Damien L Bruno, et al.
Clinical Cases in Mineral and Bone Metabolism : the Official Journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases|December 7, 2016
Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosisNiloufar Torkamani, Pramit Phal, Ravi Savarirayan, et al.
American Journal of Medical Genetics. Part A|January 25, 2005
Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3David J Amor, Lucille Voullaire, Karen Bentley, et al.
American Journal of Medical Genetics. Part A|December 31, 2003
Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural historyRavi Savarirayan, Robert J Boyle, John Masel, et al.
Atherosclerosis|September 1, 2009
A role for plasma transforming growth factor-beta and matrix metalloproteinases in aortic aneurysm surveillance in Marfan syndrome?Anna A Ahimastos, Anuradha Aggarwal, Ravi Savarirayan, et al.
Molecular Genetics & Genomic Medicine|April 19, 2020
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disordersPernille A Gregersen, Victoria McKay, Maie Walsh, et al.
The Application of Clinical Genetics|July 24, 2014
Optimal management of complications associated with achondroplasiaPenny J Ireland, Verity Pacey, Andreas Zankl, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 19, 2026
Evaluating the impact of vosoritide on complications of achondroplasiaRavi Savarirayan, Jacqueline T Hecht, Kala Jayaram, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2023
A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasiaNatassja Billich, Katie O'Brien, Svein O Fredwall, et al.
Clinical Genetics|March 28, 2019
Current knowledge of medical complications in adults with achondroplasia: A scoping reviewSvein O Fredwall, Grethe Maanum, Heidi Johansen, et al.
Pageof 19

Showing results (41-50 of 186) with videos related to

Sort By:
Pageof 19
American Journal of Medical Genetics. Part A|August 5, 2010
Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7Zornitza Stark, Monique M Ryan, Damien L Bruno, et al.
Clinical Cases in Mineral and Bone Metabolism : the Official Journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases|December 7, 2016
Concomitant extraspinal hyperostosis and osteoporosis in a patient with congenital ichthyosisNiloufar Torkamani, Pramit Phal, Ravi Savarirayan, et al.
American Journal of Medical Genetics. Part A|January 25, 2005
Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3David J Amor, Lucille Voullaire, Karen Bentley, et al.
American Journal of Medical Genetics. Part A|December 31, 2003
Longterm follow-up in chondrodysplasia punctata, tibia-metacarpal type, demonstrating natural historyRavi Savarirayan, Robert J Boyle, John Masel, et al.
Atherosclerosis|September 1, 2009
A role for plasma transforming growth factor-beta and matrix metalloproteinases in aortic aneurysm surveillance in Marfan syndrome?Anna A Ahimastos, Anuradha Aggarwal, Ravi Savarirayan, et al.
Molecular Genetics & Genomic Medicine|April 19, 2020
A new case of Greenberg dysplasia and literature review suggest that Greenberg dysplasia, dappled diaphyseal dysplasia, and Astley-Kendall dysplasia are allelic disordersPernille A Gregersen, Victoria McKay, Maie Walsh, et al.
The Application of Clinical Genetics|July 24, 2014
Optimal management of complications associated with achondroplasiaPenny J Ireland, Verity Pacey, Andreas Zankl, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 19, 2026
Evaluating the impact of vosoritide on complications of achondroplasiaRavi Savarirayan, Jacqueline T Hecht, Kala Jayaram, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 18, 2023
A scoping review of nutrition issues and management strategies in individuals with skeletal dysplasiaNatassja Billich, Katie O'Brien, Svein O Fredwall, et al.
Clinical Genetics|March 28, 2019
Current knowledge of medical complications in adults with achondroplasia: A scoping reviewSvein O Fredwall, Grethe Maanum, Heidi Johansen, et al.
Pageof 19