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Journal of Inherited Metabolic Disease|December 3, 2011
Propionic acidemia: neonatal versus selective metabolic screeningS C Grünert, S Müllerleile, L de Silva, 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.Human Molecular Genetics|September 5, 2001
The mutational spectrum of human malignant autosomal recessive osteopetrosisC Sobacchi, A Frattini, P Orchard, 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.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.Journal of Medical Genetics|June 26, 2010
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia familyJ Dai, O-H Kim, T-J Cho, et al.Journal of Inherited Metabolic Disease|October 29, 2011
Mutation analysis in 54 propionic acidemia patientsJ P Kraus, E Spector, S Venezia, 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 31