Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children von NORRGARD, K. J, POMPONIO, R. J, HYMES, J, WOLF, B

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Delayed-onset profound biotinidase deficiency von Wolf, Barry, Pomponio, Robert J., Norrgard, Karen J., Lott, Ira T., Baumgartner, E.Regula, Suormala, Terttu, Ramaekers, Vincent Th, Coskun, Turgay, Tokatli, Aysegul, Ozalp, Imran, Hymes, Jeanne

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Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 12... von Norrgard, K J, Pomponio, R J, Swango, K L, Hymes, J, Reynolds, T, Buck, G A, Wolf, B

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Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children von POMPONIO, R. J, NORRGARD, K. J, HYMES, J, REYNOLDS, T. R, BUCK, G. A, BAUMGARTNER, R, SUORMALA, T, WOLF, B

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Examination of the Signal Peptide Region of Human Biotinidase Using a Baculovirus Expression System von Norrgard, Karen J., Hymes, Jeanne, Wolf, Barry

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Fine Mapping of the Human Biotinidase Gene and Haplotype Analysis of Five Common Mutations von Blanton, Susan Halloran, Pandya, Arti, Landa, Barbara L., Javaheri, Razieh, Xia, Xia-Juan, Nance, Walter E., Pomponio, Robert J., Norrgard, Karen J., Swango, Katie L., Demirkol, Mübeccel, Gülden, Hüner, Coskun, Turgay, Tokatli, Aysegül, Ozalp, Imran, Wolf, Barry

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Delayed-onset profound biotnidase deficiency von Wolf, B., Pomponio, R., Norrgard, K., Lott, I., Baumgartner, E. R., Suormala, T., RAMAEKERS, Vincent, Coskun, T., Tokatli, A., Ozalp, I., Hymes, J.

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Improved spatial resolution microanalysis in a scanning transmission electron microscope von Faulkner, R. G., Hopkins, T. C., Norrgård, K.

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Double mutation (A171T) and (D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States von Norrgard, Karen J., Pomponio, Robert J., Swango, Katie L., Hymes, Jeanne, Reynolds, Thomas, Buck, Gregory A., Wolf, Barry

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Mutation (Q456H) Is the Most Common Cause of Profound Biotinidase Deficiency in Children Ascertained by Newborn Screening in the United States von Norrgard, Karen J., Pomponio, Robert J., Swango, Katie L., Hymes, Jeanne, Reynolds, Thomas R., Buck, Gregory A., Wolf, Barry

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Determination of organic sulphur in raw and chemically cleaned coals by scanning electron microscopy and energy dispersive X-ray spectrometry von Maijgren, Barbro, Hübner, Walter, Norrgård, Kurt, Sundvall, Sol-Britt

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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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X-Ray Microanalytical Sensitivity and Spatial Resolution in Scanning Transmission Electron Microscopes von Faulkner, R G, Norrgard, K

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Grating magneto-optical traps with complicated level structures von Barker, Daniel S, Elgee, Peter K, Sitaram, Ananya, Norrgard, Eric B, Klimov, Nikolai N, Campbell, Gretchen K, Eckel, Stephen

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Electromagnetically induced transparency based Rydberg-atom sensor for traceable voltage measurements von Holloway, Christopher L., Prajapati, Nikunjkumar, Sherman, Jeffery A., Rüfenacht, Alain, Artusio-Glimpse, Alexandra B., Simons, Matthew T., Robinson, Amy K., La Mantia, David S., Norrgard, Eric B.

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Radiative decay rate and branching fractions of MgF von Norrgard, E. B., Chamorro, Yuly, Cooksey, C. C., Eckel, S. P., Pilgram, N. H., Rodriguez, K. J., Yoon, H. W., Pašteka, Lukáš F., Borschevsky, Anastasia

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Ultrasonographic screening of the abdominal aorta among siblings of patients with abdominal aortic aneurysms von Bengtsson, H., Norrgård, Ö., Ängquist, K. A., Ekberg, O., Öberg, L., Bergqvist, D.

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Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms von TROMP, G, YULI WU, COLE, C. W, JAAKKOLA, P, RYYNÄNEN, M, PEARCE, W. H, YAO, J. S. T, KARI MAJAMAA, SMULLENS, S. N, GATALICA, Z, FERRELL, R. E, JIMENEZ, S. A, PROCKOP, D. J, JACKSON, C. E, MICHELS, V. V, KAYE, M, KUIVANIEMI, H, MADHATHERI, S. L, KLEINERT, C, EARLEY, J. J, JIAPIAO ZHUANG, NORRGÅRD, Ö, DARLING, R. C, ABBOTT, W. M

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Calcification of the intervertebral discs and curvature of the radius and ulna: a radiographic survey of Finnish miniature dachshunds von Lappalainen, A, Norrgård, M, Alm, K, Snellman, M, Laitinen, O

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Familial aortic aneurysms: Serum concentrations of triglyceride, cholesterol, HDL-cholesterol and (VLDL + LDL)-cholesterol von Norrgård, Ö., Ängquist, K.-A., Johnson, O.

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