Educational innovations in clinical pharmacogenomics von Perry, CG, Maloney, KA, Beitelshees, AL, Jeng, LJB, Ambulos Jr, NP, Shuldiner, AR, Blitzer, MG

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The state of the medical geneticist workforce: Findings of the 2003 survey of American Board of Medical Genetics certified geneticists von Cooksey, Judith A., Forte, Gaetano, Benkendorf, Judith, Blitzer, Miriam G.

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Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life von Boles, Richard G., Buck, Elizabeth A., Blitzer, Miriam G., Platt, Marvin S., Cowan, Tina M., Martin, Spencer K., Yoon, Hye-ran, Madsen, Jill A., Reyes-Mugica, Miguel, Rinaldo, Piero

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Molecular characterization of a unique patient with epimerase‐deficiency galactosaemia von Alano, A., Almashanu, S., Chinsky, J. M., Costeas, P., Blitzer, M. G., Wulfsberg, E. A., Cowan, T. M.

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Biochemical diagnosis of fatty acid oxidation disorders by metabolite analysis of postmortem liver von Boles, Richard G., Martin, Spencer K., Blitzer, Miriam G., Rinaldo, Piero

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Multiple-marker screening in pregnancies with hydropic and nonhydropic Turner syndrome von Saller, Devereux N., Canick, Jacob A., Schwartz, Stuart, Blitzer, Miriam G.

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Second-trimester maternal serum analyte levels associated with fetal trisomy 13 von Saller Jr, Devereux N., Canick, Jacob A., Blitzer, Miriam G., Palomaki, Glenn E., Schwartz, Stuart, Blakemore, Karin J., Haddow, James E.

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Partial biotinidase deficiency: Clinical and biochemical features von Secor McVoy, Julie R., Levy, Harvey L., Lawler, Michael, Schmidt, Michael A., Ebers, Douglas D., Hart, P. Suzanne, Pettit, Denise Dove, Blitzer, Miriam G., Wolf, Barry

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Inborn errors of metabolism and Reye syndrome: Differential diagnosis von Greene, Carol L., Blitzer, Miriam G., Shapira, Emmanuel

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Congenital nephrosis: Detection of index cases through maternal serum α-fetoprotein screening von Hogge, William A., Hogge, Joan S., Schnatterly, Patricia T., Sun, C.J., Blitzer, Miriam G.

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Detection of Cocaine and Its Metabolites in Human Amniotic Fluid von Ripple, Mary G., Goldberger, Bruce A., Caplan, Yale H., Blitzer, Miriam G., Schwartz, Stuart

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Discrimination of phenylketonurics from persistent hyperphenylalaninemia patients using a simple phenylalanine loading test von Blitzer, Miriam G., Bailey-Wilson, Joan E., Shapira, Emmanuel

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Profound biotinidase deficiency in two asymptomatic adults von Wolf, Barry, Norrgard, Karen, Pomponio, Robert J., Mock, Donald M., Secor McVoy, Julie R., Fleischhauer, Kristin, Shapiro, Steven, Blitzer, Miriam G., Hymes, Jeanne

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Use of Radioimmunoassay for Serum Trypsin in Cystic Fibrosis von Blitzer, Miriam G., Shapira, Emmanuel

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Proficiency testing for biochemical genetics laboratories : the first 10 rounds of testing von SHAPIRA, E, TAYLOR, H. A, TEDESCO, T. A, THOMPSON, J. N, TOCCI, P. M, WARD, J. C, WILSON, W. G

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Evaluation of inorganic pyrophosphate in amniotic fluid as a mode of prenatal diagnosis of osteogenesis imperfecta von Garver, Kenneth L., Blitzer, Miriam G., Ibezim, Gladys, Marchese, Sandra G., Pegram, Dolores L., Hagins, Anita M., Zhang, Wnjing

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Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: Implications for evaluation of new therapies von McDowell, Geraldine A., Cowan, Tina M., Blitzer, Miriam G., Greene, Carol L.

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A thermolabile variant of α-L-fucosidase-clinical and laboratory findings von Blitzer, Miriam G., Sutton, Millicent, Miller, James B., Shapira, Emmanuel, Opitz, John M., Reynolds, James F.

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The "muscular variant" of Pompe disease: Clinical, biochemical and histologic characteristics von Temple, Julia K., Dunn, David W., Blitzer, Miriam G., Shapira, Emmanuel, Opitz, John M., Reynolds, James F.

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Maroteaux-Lamy syndrome in a large consanguineous kindred: Biochemical and immunological studies von Black, Susan H., Pelias, Mary Z., Miller, James B., Blitzer, Miriam G., Shapira, Emmanuel, Opitz, John M., Reynolds, James F.

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