Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis von Ordulu, Zehra, Kammin, Tammy, Brand, Harrison, Pillalamarri, Vamsee, Redin, Claire E., Collins, Ryan L., Blumenthal, Ian, Hanscom, Carrie, Pereira, Shahrin, Bradley, India, Crandall, Barbara F., Gerrol, Pamela, Hayden, Mark A., Hussain, Naveed, Kanengisser-Pines, Bibi, Kantarci, Sibel, Levy, Brynn, Macera, Michael J., Quintero-Rivera, Fabiola, Spiegel, Erica, Stevens, Blair, Ulm, Janet E., Warburton, Dorothy, Wilkins-Haug, Louise E., Yachelevich, Naomi, Gusella, James F., Talkowski, Michael E., Morton, Cynthia C.

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Duchenne muscular dystrophy caused by a DMD nonsense mutation transmitted from a grandfather with somatic mosaicism von Ulm, E, Walker, M, Wong, B

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Breakpoint spanning PCR of the DMD gene to resolve discrepancy between MLPA and targeted aCGH results to confirm predicted effect on reading frame von Ulm, E, Hegde, M, Ramesh Reddy Nallamilli, B, Alexander, J, Wong, B

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A Phase I Study of LGD1069 in Adults with Advanced Cancer von RIZVI, N. A, MARSHALL, J. L, HAWKINS, M. J, DAHUT, W, NESS, E, TRUGLIA, J. A, LOEWEN, G, GILL, G. M, ULM, E. H, GEISER, R, JAUNAKAIS, D

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P180 A retrospective chart review evaluating clinical presentation and genetic testing approaches for patients with neuromuscular disorders von Rosenberg, A., Tian, C., He, H., Ulm, E., Collins, K., Nagaraj, C Bhimarao

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DMD – BIOMARKERS & OUTCOME MEASURES: P.127 Identification of biallelic DMD variants during maternal carrier testing for Becker muscular dystrophy von Ulm, E., Nagaraj, C., Dyer, L., Sund, K., Tian, C.

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DMD – BIOMARKERS & OUTCOME MEASURES von Ulm, E., Nagaraj, C., Dyer, L., Sund, K., Tian, C.

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G.P.47 - Duchenne muscular dystrophy caused by a DMD nonsense mutation transmitted from a grandfather with somatic mosaicism von Ulm, E., Walker, M., Wong, B.

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Optimal consumption and allocation in variable annuities with Guaranteed Minimum Death Benefits von Gao, Jin, Ulm, Eric R.

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MITOCHONDRIAL DISEASES (Posters): P.190Novel variant of GOSR2 gene in a patient presenting with mitochondrial myopathy and epilepsy von Arroyo, M., Wong, B., Fuller, C., Schorry, E., Ulm, E., Tian, C.

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MITOCHONDRIAL DISEASES (Posters) von Arroyo, M., Wong, B., Fuller, C., Schorry, E., Ulm, E., Tian, C.

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Initial clinical trial of the retinoid receptor pan agonist 9-cis retinoic acid von V A Miller, J R Rigas, F M Benedetti, A L Verret, W P Tong, M G Kris, G M Gill, G R Loewen, J A Truglia, E H Ulm, R P Warrell, Jr

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Phase I study of 9-cis-retinoic acid (ALRT1057 capsules) in adults with advanced cancer von RIZVI, N. A, MARSHALL, J. L, NESS, E, YOE, J, GILL, G. M, TRUGLIA, J. A, LOEWEN, G. R, JAUNAKAIS, D, ULM, E. H, HAWKINS, M. J

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G.P.225 - Breakpoint spanning PCR of the DMD gene to resolve discrepancy between MLPA and targeted aCGH results to confirm predicted effect on reading frame von Ulm, E., Hegde, M., Ramesh Reddy Nallamilli, B., Alexander, J., Wong, B.

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Renin inhibitors. Syntheses of subnanomolar, competitive, transition-state analog inhibitors containing a novel analog of statine von Boger, Joshua, Payne, Linda S, Perlow, Debra S, Lohr, Nancy S, Poe, Martin, Blaine, Edward H, Ulm, Edgar H, Schorn, Terry W, LaMont, Bruce I

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Recurrent Trisomies: Chance or Inherited Predisposition? von Ulm, Janet E.

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A new class of angiotensin-converting enzyme inhibitors von Patchett, A. A, Harris, E, Tristram, E. W, Wyvratt, M. J, Wu, M. T, Taub, D, Peterson, E. R, Ikeler, T. J, ten Broeke, J, Payne, L. G, Ondeyka, D. L, Thorsett, E. D, Greenlee, W. J, Lohr, N. S, Hoffsommer, R. D, Joshua, H, Ruyle, W. V, Rothrock, J. W, Aster, S. D, Maycock, A. L, Robinson, F. M, Hirschmann, R, Sweet, C. S, Ulm, E. H, Gross, D. M, Vassil, T. C, Stone, C. A

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Pharmacokinetics of 9-cis-retinoic acid in the rhesus monkey von ADAMSON, P. C, MURPHY, R. F, GODWIN, K. A, ULM, E. H, BALIS, F. M

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Conformationally restricted inhibitors of angiotensin-converting enzyme. Synthesis and computations von Thorsett, Eugene D, Harris, Elbert E, Aster, Susan D, Peterson, Elwood R, Snyder, James P, Springer, James P, Hirshfield, Jordan, Tristram, Edward W, Patchett, Arthur A

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Phosphorus-Containing Inhibitors of Angiotensin-Converting Enzyme von Thorsett, Eugene D., Harris, Elbert E., Peterson, Elwood R., Greenlee, William J., Patchett, Arthur A., Ulm, Edgar H., Vassil, Theodore C.

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