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European Journal of Pediatrics|March 1, 1997
Heterogeneity in Schwartz-Jampel chondrodystrophic myotoniaA Giedion, E Boltshauser, J Briner, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|November 26, 1999
Determination of bone markers in pycnodysostosis: effects of cathepsin K deficiency on bone matrix degradationY Nishi, L Atley, D E Eyre, et al.Neuromuscular Disorders : NMD|March 29, 2005
Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)J A Lobrinus, D F Schorderet, M Payot, et al.Nature Genetics|May 20, 1998
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosisD J Shears, H J Vassal, F R Goodman, et al.Klinische Padiatrie|June 2, 2010
Novel homozygous mutation (c.175delG) in platelet glycoprotein ITGA2B gene as cause of Glanzmann's thrombasthenia type IC Vannier, W Behnisch, I Bartsch, et al.Journal of Inherited Metabolic Disease|August 6, 2008
Congenital disorder of glycosylation type Id (CDG Id): phenotypic, biochemical and molecular characterization of a new patientA Rimella-Le-Huu, H Henry, I Kern, et al.The American Journal of Pathology|February 13, 2001
PC-1 nucleoside triphosphate pyrophosphohydrolase deficiency in idiopathic infantile arterial calcificationF Rutsch, S Vaingankar, K Johnson, et al.Bulletin Du Cancer|October 1, 1975
[Clinical use of carcinoembryonic antigen (CEA) determination]J MachClinical Chemistry|September 25, 2001
Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specificR Fingerhut, W Röschinger, A C Muntau, et al.Proceedings of the Association of American Physicians|May 1, 1996
Gaucher disease: four families with previously undescribed mutationsE Beutler, T Gelbart, D Balicki, et al.Pageof 19