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Journal of Thoracic Imaging|June 5, 2016
Automated Quantitative Computed Tomography Versus Visual Computed Tomography Scoring in Idiopathic Pulmonary Fibrosis: Validation Against Pulmonary FunctionJoseph Jacob, Brian J Bartholmai, Srinivasan Rajagopalan, et al.Genomics|September 24, 1999
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1L Feliubadaló, L Bisceglia, M Font, et al.British Journal of Pharmacology|September 30, 2009
The Scar-in-a-Jar: studying potential antifibrotic compounds from the epigenetic to extracellular level in a single wellC Z C Chen, Y X Peng, Z B Wang, 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.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.International Journal of Biological Macromolecules|May 26, 2026
Engineering a multilayered thin-film agarose-based hydrogel to support adipose-derived stromal vascular fraction therapy in spinal cord injuryV Veneruso, Z Giorgi, E Petillo, 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 23