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Ravi Savarirayan

Showing results (31-40 of 186) with videos related to

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The Lancet. Child & Adolescent Health|March 14, 2024
New treatments for children with achondroplasiaRavi Savarirayan, Julie Hoover-Fong, Patrick Yap, et al.
Orphanet Journal of Rare Diseases|November 5, 2021
Hearing loss in Norwegian adults with achondroplasiaSvein O Fredwall, Björn Åberg, Hanne Berdal, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringZornitza Stark, Rebecca Storen, Bruce Bennetts, et al.
Annals of Plastic Surgery|July 25, 2006
Isolated and syndromic syngnathism: management, implications, and geneticsJillian K Tomlinson, Nguyen Thanh Liem, Ravi Savarirayan, et al.
American Journal of Medical Genetics. Part A|October 14, 2005
Medial temporal lobe dysgenesis in hypochondroplasiaPeter Kannu, Ian M Hayes, Simone Mandelstam, et al.
American Journal of Medical Genetics. Part A|January 13, 2016
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotypePatrick Yap, Jan E Liebelt, David J Amor, et al.
Human Mutation|May 10, 2005
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasiaJohn F Bateman, Richard Wilson, Susanna Freddi, et al.
International Journal of Paediatric Dentistry|November 19, 2013
Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palateAndrea Aspinall, Supriya Raj, Anil Jugessur, et al.
American Journal of Medical Genetics. Part A|March 15, 2006
Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndromePeter Kannu, Ravi Savarirayan, Linda Ozoemena, et al.
Arthritis and Rheumatism|January 31, 2009
Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritisPeter Kannu, John F Bateman, Daniele Belluoccio, et al.
Pageof 19

Showing results (31-40 of 186) with videos related to

Sort By:
Pageof 19
The Lancet. Child & Adolescent Health|March 14, 2024
New treatments for children with achondroplasiaRavi Savarirayan, Julie Hoover-Fong, Patrick Yap, et al.
Orphanet Journal of Rare Diseases|November 5, 2021
Hearing loss in Norwegian adults with achondroplasiaSvein O Fredwall, Björn Åberg, Hanne Berdal, et al.
European Journal of Human Genetics : EJHG|February 18, 2011
Isolated hypogonadotropic hypogonadism with SOX2 mutation and anophthalmia/microphthalmia in offspringZornitza Stark, Rebecca Storen, Bruce Bennetts, et al.
Annals of Plastic Surgery|July 25, 2006
Isolated and syndromic syngnathism: management, implications, and geneticsJillian K Tomlinson, Nguyen Thanh Liem, Ravi Savarirayan, et al.
American Journal of Medical Genetics. Part A|October 14, 2005
Medial temporal lobe dysgenesis in hypochondroplasiaPeter Kannu, Ian M Hayes, Simone Mandelstam, et al.
American Journal of Medical Genetics. Part A|January 13, 2016
Pseudodiastrophic dysplasia: Two cases delineating and expanding the pre and postnatal phenotypePatrick Yap, Jan E Liebelt, David J Amor, et al.
Human Mutation|May 10, 2005
Mutations of COL10A1 in Schmid metaphyseal chondrodysplasiaJohn F Bateman, Richard Wilson, Susanna Freddi, et al.
International Journal of Paediatric Dentistry|November 19, 2013
Expanding the cleft phenotype: the dental characteristics of unaffected parents of Australian children with non-syndromic cleft lip and palateAndrea Aspinall, Supriya Raj, Anil Jugessur, et al.
American Journal of Medical Genetics. Part A|March 15, 2006
Rapp-Hodgkin ectodermal dysplasia syndrome: the clinical and molecular overlap with Hay-Wells syndromePeter Kannu, Ravi Savarirayan, Linda Ozoemena, et al.
Arthritis and Rheumatism|January 31, 2009
Employing molecular genetics of chondrodysplasias to inform the study of osteoarthritisPeter Kannu, John F Bateman, Daniele Belluoccio, et al.
Pageof 19