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Alellic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy


, : Alellic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy. American Journal of Human Genetics 67(4 Supplement 2): 405, October


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Arias-Mendoza, F.; Zakian, K.; Schwartz, A.; Howe, F.A.; Koutcher, J.A.; Leach, M.O.; Griffiths, J.R.; Heerschap, A.; Glickson, J.D.; Nelson, S.J.; Evelhoch, J.L.; Charles, H.C.; Brown, T.R., 2004: Methodological standardization for a multi-institutional in vivo trial of localized 31P MR spectroscopy in human cancer research. In vitro and normal volunteer studies. A multi-institutional group has been created to demonstrate the utility of in vivo 31P magnetic resonance spectroscopy (31P-MRS) to study human cancers in vivo. This review is concerned with the novel problems concerning quality control in this la...

Silver, Bb, 2004: Development of cellular magnesium nano-analysis in treatment of clinical magnesium deficiency. A novel technique, using energy dispersive X-ray microanalysis (EXA [subscript tm]), for noninvasive intracellular (i.c.) measurement of magnesium [Mg superscript 2+] [subscript i] has now been accomplished and proven to be a valuable tool in mult...

Higgs, D.R.; Sharpe, J.A.; Wood, W.G., 1998: Understanding alpha globin gene expression: a step towards effective gene therapy. During the past 20 years developments in molecular and cellular biology have kindled the hope that one might eventually ameliorate or even cure some serious genetic diseases by repairing or replacing the defective gene. Other articles deal with th...

El-Zeini, M., 1976: Growth and chemical composition of some bones and muscles of rabbits on cobalt deficient diets. The effect of a Co-deficient diet on the growth and chemical composition of rabbit bones and muscles was studied. The addition of 2 mg of Co/l kg of the dry matter of feeds favorably affects the growth of some bones (shoulder blade, thigh bone, hu...

Aguero-Rosenfeld, M.E.; Kalantarpour, F.; Baluch, M.; Horowitz, H.W.; McKenna, D.F.; Raffalli, J.T.; Hsieh, T.c.; Wu, J.; Dumler, J.S.; Wormser, G.P., 2000: Serology of culture-confirmed cases of human granulocytic ehrlichiosis. The antibody responses in the sera of 24 patients diagnosed with human granulocytic ehrlichiosis (HGE) at the Westchester Medical Center in New York, USA between 1995 and 1998 were evaluated. Antibody titres were measured by an indirect immunofluo...

Tiwari, K.; Masood, M.R.thore, Y., 1979: Chemical constituents of Anemone narcissiflora Linn. Journal of the Indian Chemical Society 56(10): 1041-1042

Navas, Longino, 1932: Neurotteri e affini. Records of 3 Paraneuroptera. Neuroptera, 7 Myrmelioni-dae: Cueta impar [female] (p. 110) ; NAYA (p. 111), near Cueta, type N. stigmata (p. 112) ; Micronemurus zavat-tarinus* (p. 113) ; Megistopus flavipennis* (p. 113). Chrysopidae: Sencera fezzani...

Schwab, F.; Lafage, V.; Farcy, J-Pierre.; Bridwell, K.; Glassman, S.; Ondra, S.; Lowe, T.; Shainline, M., 2007: Surgical rates and operative outcome analysis in thoracolumbar and lumbar major adult scoliosis: application of the new adult deformity classification. Study Design. Multicenter prospective consecutive clinical series.Objective. Investigate the interaction between the Adult Deformity Classification and treatment patterns, surgical strategies, surgery effectiveness, and complication rates.Summary...

Brands, A.; Ottmani, S-Eddine.; Lönnroth, K.; Blanc, Léopold.J.; Rahman, K.; Bettchera, D.W.; Raviglione, M., 2007: Reply to 'Addressing smoking cessation in tuberculosis control'. Bulletin of the World Health Organization 85(8): 647-648