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R Savarirayan

Showing results (21-30 of 44) with videos related to

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Oral Diseases|April 9, 2002
Clinical and radiographic features of a family with autosomal dominant amelogenesis imperfecta with taurodontismM J Aldred, R Savarirayan, S R Lamandé, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|November 26, 2009
Clinical significance of two mutations in the factor IX gene in a family with haemophilia BA Sexton, J Furmedge, C Barnes, et al.
Pediatric Radiology|February 24, 2001
"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasiasV Cormier-Daire, R Savarirayan, S Unger, et al.
Journal of Medical Genetics|May 20, 2000
Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophyR Savarirayan, R J Gardner, R D Sinclair, et al.
AJNR. American Journal of Neuroradiology|November 25, 2017
Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with <i>FGFR3-</i>Related Skeletal DysplasiasS A Manikkam, K Chetcuti, K B Howell, et al.
Clinical Dysmorphology|July 12, 2001
Microlissencephaly with cardiac, spinal and urogenital defectsR J Gardner, R Savarirayan, K B Dunne, et al.
Clinical Dysmorphology|July 19, 2003
Two further cases of Ohdo syndrome delineate the phenotypic variability of the conditionS M White, L C Adès, D Amor, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type IaD Coman, D Bostock, M Hunter, et al.
Journal of Medical Genetics|February 24, 2001
Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasiaS P Robertson, D J Shears, P Oei, et al.
American Journal of Medical Genetics|May 5, 2001
"Baby rattle" pelvis dysplasiaV Cormier-Daire, R Savarirayan, R S Lachman, et al.
Pageof 5

Showing results (21-30 of 44) with videos related to

Sort By:
Pageof 5
Oral Diseases|April 9, 2002
Clinical and radiographic features of a family with autosomal dominant amelogenesis imperfecta with taurodontismM J Aldred, R Savarirayan, S R Lamandé, et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia|November 26, 2009
Clinical significance of two mutations in the factor IX gene in a family with haemophilia BA Sexton, J Furmedge, C Barnes, et al.
Pediatric Radiology|February 24, 2001
"Duplicate calcaneus": a rare developmental defect observed in several skeletal dysplasiasV Cormier-Daire, R Savarirayan, S Unger, et al.
Journal of Medical Genetics|May 20, 2000
Rough skin, brittle hair, and photosensitivity: a mild phenotypic variant of trichothiodystrophyR Savarirayan, R J Gardner, R D Sinclair, et al.
AJNR. American Journal of Neuroradiology|November 25, 2017
Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with <i>FGFR3-</i>Related Skeletal DysplasiasS A Manikkam, K Chetcuti, K B Howell, et al.
Clinical Dysmorphology|July 12, 2001
Microlissencephaly with cardiac, spinal and urogenital defectsR J Gardner, R Savarirayan, K B Dunne, et al.
Clinical Dysmorphology|July 19, 2003
Two further cases of Ohdo syndrome delineate the phenotypic variability of the conditionS M White, L C Adès, D Amor, et al.
American Journal of Medical Genetics. Part A|January 19, 2008
Primary skeletal dysplasia as a major manifesting feature in an infant with congenital disorder of glycosylation type IaD Coman, D Bostock, M Hunter, et al.
Journal of Medical Genetics|February 24, 2001
Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasiaS P Robertson, D J Shears, P Oei, et al.
American Journal of Medical Genetics|May 5, 2001
"Baby rattle" pelvis dysplasiaV Cormier-Daire, R Savarirayan, R S Lachman, et al.
Pageof 5