Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Ravi Savarirayan

Showing results (21-30 of 186) with videos related to

Pageof 19
Sort By:
Nature Reviews. Genetics|April 6, 2025
The genetic basis of human heightLouise S Bicknell, Joel N Hirschhorn, Ravi Savarirayan
Clinical Orthopaedics and Related Research|March 29, 2011
Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentationPeter Kannu, Melita Irving, Salim Aftimos, et al.
Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons|April 16, 2004
Jaw lesions and hyperparathyroidismMichael J Aldred, Anna A Talacko, Ravi Savarirayan
Human Molecular Genetics|January 30, 2003
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilageJohn F Bateman, Susanna Freddi, Gary Nattrass, et al.
American Journal of Medical Genetics. Part A|October 16, 2007
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblingsPeter Kannu, Jeannette H McFarlane, Ravi Savarirayan, et al.
The Australasian Journal of Dermatology|June 11, 2015
Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disordersFriyana K Bhabha, Maie Walsh, David Orchard, et al.
Pediatric Pathology & Molecular Medicine|April 12, 2003
Variable expression of campomelic dysplasia in a father and his 46, XY daughterRavi Savarirayan, Stephen P Robertson, Agnes Bankier, et al.
American Journal of Medical Genetics. Part A|September 21, 2007
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural historyPeter Kannu, Salim Aftimos, Val Mayne, et al.
Journal of Pediatric Nursing|April 11, 2024
Exploring the family experience of children aged 2-4 years receiving daily vosoritide injections: A qualitative studyTessa Dentry, Jenny O'Neill, Supriya Raj, et al.
American Journal of Medical Genetics. Part A|September 5, 2003
Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short statureVictoria Hill, Margaret Sahhar, MaryAnne Aitken, et al.
Pageof 19

Showing results (21-30 of 186) with videos related to

Sort By:
Pageof 19
Nature Reviews. Genetics|April 6, 2025
The genetic basis of human heightLouise S Bicknell, Joel N Hirschhorn, Ravi Savarirayan
Clinical Orthopaedics and Related Research|March 29, 2011
Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentationPeter Kannu, Melita Irving, Salim Aftimos, et al.
Journal of Oral and Maxillofacial Surgery : Official Journal of the American Association of Oral and Maxillofacial Surgeons|April 16, 2004
Jaw lesions and hyperparathyroidismMichael J Aldred, Anna A Talacko, Ravi Savarirayan
Human Molecular Genetics|January 30, 2003
Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilageJohn F Bateman, Susanna Freddi, Gary Nattrass, et al.
American Journal of Medical Genetics. Part A|October 16, 2007
An unclassifiable short rib-polydactyly syndrome with acromesomelic hypomineralization and campomelia in siblingsPeter Kannu, Jeannette H McFarlane, Ravi Savarirayan, et al.
The Australasian Journal of Dermatology|June 11, 2015
Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disordersFriyana K Bhabha, Maie Walsh, David Orchard, et al.
Pediatric Pathology & Molecular Medicine|April 12, 2003
Variable expression of campomelic dysplasia in a father and his 46, XY daughterRavi Savarirayan, Stephen P Robertson, Agnes Bankier, et al.
American Journal of Medical Genetics. Part A|September 21, 2007
Metatropic dysplasia: clinical and radiographic findings in 11 patients demonstrating long-term natural historyPeter Kannu, Salim Aftimos, Val Mayne, et al.
Journal of Pediatric Nursing|April 11, 2024
Exploring the family experience of children aged 2-4 years receiving daily vosoritide injections: A qualitative studyTessa Dentry, Jenny O'Neill, Supriya Raj, et al.
American Journal of Medical Genetics. Part A|September 5, 2003
Experiences at the time of diagnosis of parents who have a child with a bone dysplasia resulting in short statureVictoria Hill, Margaret Sahhar, MaryAnne Aitken, et al.
Pageof 19