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R Savarirayan

Showing results (31-40 of 44) with videos related to

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American Journal of Medical Genetics|September 12, 2000
New mesomelic dysplasia with absent fibulae and triangular tibiaeR Savarirayan, V Cormier-Daire, C J Curry, et al.
Obstetric Medicine|September 2, 2016
Pregnancy in a woman with proportionate (primordial) dwarfism: a case report and literature reviewC E Vance, M Desmond, A Robinson, et al.
Clinical Genetics|July 30, 2011
Two novel germline KRAS mutations: expanding the molecular and clinical phenotypeZ Stark, G Gillessen-Kaesbach, M M Ryan, et al.
American Journal of Medical Genetics|December 5, 2000
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphologyR Savarirayan, V Cormier-Daire, S Unger, et al.
Human Genetics|January 26, 2002
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann diseaseB Campos-Xavier, J M Saraiva, R Savarirayan, et al.
Oral Diseases|October 5, 2002
Molecular analysis for genetic counselling in amelogenesis imperfectaM J Aldred, R K Hall, N Kilpatrick, et al.
Journal of Medical Genetics|August 3, 2005
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domainG McGillivray, R Savarirayan, T C Cox, et al.
American Journal of Medical Genetics. Part A|April 27, 2004
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndromeS M White, E M Thompson, A Kidd, et al.
Journal of Medical Genetics|May 19, 2009
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndromeT Y Tan, S Aftimos, L Worgan, et al.
American Journal of Human Genetics|May 12, 2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tardaA K Gedeon, G E Tiller, M Le Merrer, et al.
Pageof 5

Showing results (31-40 of 44) with videos related to

Sort By:
Pageof 5
American Journal of Medical Genetics|September 12, 2000
New mesomelic dysplasia with absent fibulae and triangular tibiaeR Savarirayan, V Cormier-Daire, C J Curry, et al.
Obstetric Medicine|September 2, 2016
Pregnancy in a woman with proportionate (primordial) dwarfism: a case report and literature reviewC E Vance, M Desmond, A Robinson, et al.
Clinical Genetics|July 30, 2011
Two novel germline KRAS mutations: expanding the molecular and clinical phenotypeZ Stark, G Gillessen-Kaesbach, M M Ryan, et al.
American Journal of Medical Genetics|December 5, 2000
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphologyR Savarirayan, V Cormier-Daire, S Unger, et al.
Human Genetics|January 26, 2002
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann diseaseB Campos-Xavier, J M Saraiva, R Savarirayan, et al.
Oral Diseases|October 5, 2002
Molecular analysis for genetic counselling in amelogenesis imperfectaM J Aldred, R K Hall, N Kilpatrick, et al.
Journal of Medical Genetics|August 3, 2005
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domainG McGillivray, R Savarirayan, T C Cox, et al.
American Journal of Medical Genetics. Part A|April 27, 2004
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndromeS M White, E M Thompson, A Kidd, et al.
Journal of Medical Genetics|May 19, 2009
Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndromeT Y Tan, S Aftimos, L Worgan, et al.
American Journal of Human Genetics|May 12, 2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tardaA K Gedeon, G E Tiller, M Le Merrer, et al.
Pageof 5