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Human Genetics|January 5, 2007
A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34B Isidor, N Dagoneau, C Huber, et al.American Journal of Medical Genetics. Part A|May 27, 2010
Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysisS Marlin, H Ducou Le Pointe, M Le Merrer, et al.Pathologie-Biologie|February 2, 2010
[Genetic testing in the context of the revision of the French law on bioethics]D Bonneau, S Marlin, D Sanlaville, et al.Archives Francaises De Pediatrie|August 1, 1988
[Lethal syndromes with thin bones]P Maroteaux, L Cohen-Solal, J Bonaventure, et al.Child'S Nervous System : Chns : Official Journal of the International Society for Pediatric Neurosurgery|June 1, 1997
Congenital lumbosacral lipomasA Pierre-Kahn, M Zerah, D Renier, et al.Journal of Medical Genetics|January 15, 2003
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndromeL Faivre, R J Gorlin, M K Wirtz, et al.Clinical Genetics|May 8, 2010
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneityC Jung, N Dagoneau, G Baujat, et al.American Journal of Medical Genetics|December 1, 1992
Type II collagen defect in two sibs with the Goldblatt syndrome, a chondrodysplasia with dentinogenesis imperfecta, and joint laxityJ Bonaventure, R Stanescu, V Stanescu, et al.Journal of Medical Genetics|November 2, 1999
Two sibs with an unusual pattern of skeletal malformations resembling osteogenesis imperfecta: a new type of skeletal dysplasia?U Moog, P Maroteaux, C T Schrander-Stumpel, et al.Annales De Genetique|January 1, 1989
Townes-Brocks syndrome. Report of a case and review of the literatureF G Ferraz, L Nunes, M E Ferraz, et al.Pageof 29