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B Steinmann

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Annals of the New York Academy of Sciences|June 8, 1996
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycansA Superti-Furga, J Hästbacka, A Rossi, et al.
The Journal of Clinical Investigation|March 1, 1994
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotypeM R Pollak, Y H Chou, S J Marx, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 30, 1983
Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosineS K Wadman, M Duran, D Ketting, et al.
Nature Genetics|January 1, 1996
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter geneA Superti-Furga, J Hästbacka, W R Wilcox, et al.
Human Mutation|March 27, 1999
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. OnlineA Taillandier, L Zurutuza, F Muller, et al.
Journal of Inherited Metabolic Disease|January 12, 2007
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathyG F Hoffmann, B Schmitt, M Windfuhr, et al.
American Journal of Human Genetics|July 1, 1996
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13Y Gong, M Vikkula, L Boon, et al.
Cell|November 24, 2001
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye developmentY Gong, R B Slee, N Fukai, et al.
Pageof 24

Showing results (231-240 of 238) with videos related to

Sort By:
Pageof 24
You have reached the last page of results.This site can display upto 238 results.
Annals of the New York Academy of Sciences|June 8, 1996
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycansA Superti-Furga, J Hästbacka, A Rossi, et al.
The Journal of Clinical Investigation|March 1, 1994
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotypeM R Pollak, Y H Chou, S J Marx, et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry|May 30, 1983
Urinary excretion of deuterated metabolites in patients with tyrosinemia type I after oral loading with deuterated L-tyrosineS K Wadman, M Duran, D Ketting, et al.
Nature Genetics|January 1, 1996
Achondrogenesis type IB is caused by mutations in the diastrophic dysplasia sulphate transporter geneA Superti-Furga, J Hästbacka, W R Wilcox, et al.
Human Mutation|March 27, 1999
Characterization of eleven novel mutations (M45L, R119H, 544delG, G145V, H154Y, C184Y, D289V, 862+5A, 1172delC, R411X, E459K) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with severe hypophosphatasia. Mutations in brief no. 217. OnlineA Taillandier, L Zurutuza, F Muller, et al.
Journal of Inherited Metabolic Disease|January 12, 2007
Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathyG F Hoffmann, B Schmitt, M Windfuhr, et al.
American Journal of Human Genetics|July 1, 1996
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13Y Gong, M Vikkula, L Boon, et al.
Cell|November 24, 2001
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye developmentY Gong, R B Slee, N Fukai, et al.
Pageof 24