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Molecular and Cellular Biology|February 1, 1989
Inhibition of tyrosine kinase activity of the epidermal growth factor (EGF) receptor by a truncated receptor form that binds to EGF: role for interreceptor interaction in kinase regulationA Basu, M Raghunath, S Bishayee, et al.Journal of Medical Genetics|December 1, 1992
Deficiencies of fibrillin and decorin in fibroblast cultures of a patient with neonatal Marfan syndromeA Superti-Furga, M Raghunath, P J WillemsThe Journal of Biological Chemistry|May 5, 1988
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagenA Superti-Furga, E Gugler, R Gitzelmann, et al.Journal of Medical Genetics|June 1, 1989
Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen moleculeA Superti-Furga, F Pistone, C Romano, et al.American Journal of Human Genetics|December 1, 1994
A compound-heterozygous Marfan patient: two defective fibrillin alleles result in a lethal phenotypeL Karttunen, M Raghunath, L Lönnqvist, et al.American Journal of Medical Genetics|May 3, 1996
A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlationsA Superti-Furga, A Rossi, B Steinmann, et al.American Journal of Medical Genetics|August 15, 1993
Long-term follow-up of two sibs with Larsen syndrome possibly due to parental germ-line mosaicismR Petrella, J G Rabinowitz, B Steinmann, et al.European Journal of Pediatrics|May 1, 1991
Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutationA Superti-Furga, B Steinmann, G Duc, et al.Helvetica Paediatrica Acta|December 1, 1978
Hereditary fructose intolerance in early childhood: a major diagnostic challenge. Survey of 20 symptomatic casesK Baerlocher, R Gitzelmann, B Steinmann, et al.Zeitschrift Fur Kardiologie|May 20, 1998
[Marfan syndrome: prevalence and natural course of cardiovascular manifestations]Y von Kodolitsch, M Raghunath, C A NienaberPageof 23