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Clinical Dysmorphology|July 1, 1995
Heterogeneity of SPONASTRIME dysplasia: delineation of a variant form with severe mental retardationA Verloes, J P Misson, J M Dubru, et al.Presse Medicale (Paris, France : 1983)|December 3, 1988
[40 years' development of a case of pseudo-achondroplasia. Role of mechanical and cellular factors in joint destructions]J M Nores, P MaroteauxAmerican Journal of Medical Genetics|March 8, 2000
Radioulnar synostosis, radial ray abnormalities, and severe malformations in the male: a new X-linked dominant multiple congenital anomalies syndrome?S Manouvrier, A Moerman, A Coeslier, et al.American Journal of Medical Genetics|May 30, 1998
Segregation analysis in nonsyndromic holoprosencephalyS Odent, B Le Marec, A Munnich, et al.Annales De Genetique|January 1, 1984
[Lethal osteogenesis imperfecta. Definition and heterogeneity]P Maroteaux, L Cohen-SolalAmerican Journal of Medical Genetics|September 1, 1987
Apparent Apert syndrome with polydactyly: rare pleiotropic manifestation or new syndrome?P Maroteaux, M C FonfriaJournal of Medical Genetics|November 6, 2001
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritanceL Faivre, M Le Merrer, C Baumann, et al.Molecular Genetics and Metabolism|January 29, 2010
Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidaseV Valayannopoulos, N Boddaert, V Barbier, et al.Journal of Medical Genetics|January 1, 1992
Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?S Lyonnet, G Schwartz, G Gatin, et al.American Journal of Medical Genetics|December 31, 1997
Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literatureP Labrune, P Trioche, C Fallet-Bianco, et al.Pageof 29