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Clinical Genetics|July 1, 1997
Incomplete penetrance and expressivity skewing in hereditary multiple exostosesL Legeai-Mallet, A Munnich, P Maroteaux, et al.The Journal of Rheumatology|January 1, 1993
Two cases of spondylometaphyseal dysplasia. Literature review and discussion of the genetic inheritance of the diseaseJ M Nores, O Dizien, J M Remy, et al.American Journal of Medical Genetics|January 1, 1993
Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locusT Ogata, P Goodfellow, C Petit, et al.Clinical Genetics|May 1, 1991
Metaphyseal acroscyphodysplasiaA Verloes, M Le Merrer, J P Farriaux, et al.Archives Francaises De Pediatrie|August 1, 1977
[Chondrodystrophy in monozygous twins, secondary to cellular division disorder]J Battin, V Stanescu, R Stanescu, et al.Annales De Pediatrie|January 1, 1991
[A case of intrauterine dwarfism with enlargement of the cortex of the long bones]F Dusol, C Spyckerelle, F Michaux, et al.Archives Francaises De Pediatrie|March 1, 1978
[Mucolipidosis type I. Sialidosis due to alpha-2-6-neuraminidase deficiency with neurological symptoms]P Maroteaux, M Poissonnier, M Tondeur, et al.European Journal of Pediatrics|September 1, 1991
Desbuquois syndromeM Le Merrer, I D Young, V Stanescu, et al.Journal of Medical Genetics|July 1, 1992
Linkage studies of four fibrillar collagen genes in three pedigrees with Larsen-like syndromeJ Bonaventure, C Lasselin, J Mellier, et al.Annales De Pediatrie|January 1, 1991
[Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease]M le Merrer, M L Briard, M L Chauvet, et al.Pageof 42