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Ravi Savarirayan

Showing results (51-60 of 186) with videos related to

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Clinical Dysmorphology|October 18, 2003
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?Katrien Janssens, Elizabeth Thompson, Filip Vanhoenacker, et al.
Orphanet Journal of Rare Diseases|January 20, 2026
An overview of the International Consensus Statement on achondroplasiaInês Alves, Svein Otto Fredwall, Michael Hughes, et al.
American Journal of Medical Genetics. Part A|November 10, 2005
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndromeTiong Yang Tan, Agnes Bankier, Howard R Slater, et al.
Journal of the Endocrine Society|March 2, 2026
Effect of vosoritide on genu varum in children with achondroplasia after 1 year in randomized placebo-controlled trialsKlane K White, Melita Irving, Swati Mukherjee, et al.
Prenatal Diagnosis|October 15, 2003
Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasiaPaul A James, Janet Shaw, Desiree du Sart, et al.
American Journal of Medical Genetics. Part A|September 11, 2003
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable signOuti Mäkitie, Ravi Savarirayan, Luisa Bonafé, et al.
Ophthalmic Genetics|April 13, 2005
Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pterAmy C Cohn, Lisa S Kearns, Ravi Savarirayan, et al.
American Journal of Medical Genetics. Part A|May 11, 2005
Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmentiIan M Hayes, George Varigos, Edward J Upjohn, et al.
American Journal of Medical Genetics. Part A|July 21, 2004
Primary trabeculodysgenesis in association with neonatal Marfan syndromeCharlotte M Whitelaw, Samira Anwar, Lesley C Adès, et al.
Journal of Medical Genetics|August 4, 2010
WTX mutations can occur both early and late in the pathogenesis of Wilms tumourRyuji Fukuzawa, Sarah K Holman, C W Chow, et al.
Pageof 19

Showing results (51-60 of 186) with videos related to

Sort By:
Pageof 19
Clinical Dysmorphology|October 18, 2003
Macrocephaly and sclerosis of the tubular bones in an isolated patient: a mild case of craniodiaphyseal dysplasia?Katrien Janssens, Elizabeth Thompson, Filip Vanhoenacker, et al.
Orphanet Journal of Rare Diseases|January 20, 2026
An overview of the International Consensus Statement on achondroplasiaInês Alves, Svein Otto Fredwall, Michael Hughes, et al.
American Journal of Medical Genetics. Part A|November 10, 2005
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndromeTiong Yang Tan, Agnes Bankier, Howard R Slater, et al.
Journal of the Endocrine Society|March 2, 2026
Effect of vosoritide on genu varum in children with achondroplasia after 1 year in randomized placebo-controlled trialsKlane K White, Melita Irving, Swati Mukherjee, et al.
Prenatal Diagnosis|October 15, 2003
Molecular diagnosis in a pregnancy at risk for both spondyloepiphyseal dysplasia congenita and achondroplasiaPaul A James, Janet Shaw, Desiree du Sart, et al.
American Journal of Medical Genetics. Part A|September 11, 2003
Autosomal recessive multiple epiphyseal dysplasia with homozygosity for C653S in the DTDST gene: double-layer patella as a reliable signOuti Mäkitie, Ravi Savarirayan, Luisa Bonafé, et al.
Ophthalmic Genetics|April 13, 2005
Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pterAmy C Cohn, Lisa S Kearns, Ravi Savarirayan, et al.
American Journal of Medical Genetics. Part A|May 11, 2005
Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmentiIan M Hayes, George Varigos, Edward J Upjohn, et al.
American Journal of Medical Genetics. Part A|July 21, 2004
Primary trabeculodysgenesis in association with neonatal Marfan syndromeCharlotte M Whitelaw, Samira Anwar, Lesley C Adès, et al.
Journal of Medical Genetics|August 4, 2010
WTX mutations can occur both early and late in the pathogenesis of Wilms tumourRyuji Fukuzawa, Sarah K Holman, C W Chow, et al.
Pageof 19