Miniature integrated micro-spectrometer array for snap shot multispectral sensing von Danz, N, Höfer, B, Förster, E, Flügel-Paul, T, Harzendorf, T, Dannberg, P, Leitel, R, Kleinle, S, Brunner, R

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Duplications of the Functional CYP21A2 Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect von Kleinle, S., Lang, R., Fischer, G. F., Vierhapper, H., Waldhauser, F., Födinger, M., Baumgartner-Parzer, S. M.

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A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease von Kleinle, S, Schneider, V, Moosmann, P, Brandner, S, Krähenbühl, S, Liechti-Gallati, S

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Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies von Jaksch, Michaela, Kleinle, Stephanie, Scharfe, Curt, Klopstock, Thomas, Pongratz, Dieter, Müller-Höcker, Josef, Gerbitz, Klaus-D, Liechti-Gallati, Sabina, Lochmuller, Hanns, Horvath, Rita

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Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR von KLEINLE, S, WIESMANN, U, SUPERTI-FURGA, A, KRÄHENBÜHL, S, BOLTSHAUSER, E, REICHEN, J, LIECHTI-GALLATI, S

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Rapid identification of female carriers of DMD/BMD by quantitative real-time PCR von Joncourt, Franziska, Neuhaus, Barbara, Jostarndt-Foegen, Kristin, Kleinle, Stephanie, Steiner, Bernhard, Gallati, Sabina

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Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene von Jaksch, M, Klopstock, T, Kurlemann, G, Dörner, M, Hofmann, S, Kleinle, S, Hegemann, S, Weissert, M, Müller-Höcker, J, Pongratz, D, Gerbitz, K D

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A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgro... von Jaksch, M, Hofmann, S, Kleinle, S, Liechti-Gallati, S, Pongratz, D E, Müller-Höcker, J, Jedele, K B, Meitinger, T, Gerbitz, K D

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Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome von Krähenbühl, Stephan, Kleinle, Stephanie, Henz, Samuel, Leibundgut, Kurt, Liechti, Sabina, Zimmermann, Arthur, Wiesmann, Ulrich

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Problems in detecting mosaic DNA methylation in Angelman syndrome von HORSTHEMKE, Bernhard, LICH, Christina, JANSSEN, Bart, KLEINLE, Stephanie, KOCHHAN, Lothar, KRASEMANN, Ernst, KRAUS, Cornelia, KROISEL, Peter, PLENDL, Hansjörg, PURMANN, Sabine, SANDER, Gabriele, SKLADNY, Heyko, BUITING, Karin, SPITZER, Eva, THAMM-MÜCKE, Barbara, VARON-MATEEVA, Raymonda, WEINHÄUSEL, Andreas, WEIRICH, Helga, ACHMANN, Roland, AULEHLA-SCHOLZ, Christa, BAUMER, Alessandra, BÜRGER, Joachim, DWORNICZAK, Bernd, GLÄSER, Dieter, HOLINSKI-FEDER, Elke

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Miniature integrated micro-spectrometer array for snap shot multispectral sensing von Danz, N, Höfer, B, Förster, E, Flügel-Paul, T, Harzendorf, T, Dannberg, P, Leitel, R, Kleinle, S, Brunner, R

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Hyperventilation due to mitochondrial myopathy von Moosmann, Peter, Brandner, Sebastian, Kleinle, Stephani, Frauchiger, Beat

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A Novel Mitochondrial tRNAPheMutation Inhibiting Anticodon Stem Formation Associated with a Muscle Disease von Kleinle, S., Schneider, V., Moosmann, P., Brandner, S., Krähenbühl, S., Liechti-Gallati, S.

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Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNAser(UCN) gene von Jaksch, Michaela, Klopstock, Thomas, Kurlemann, Gerd, Dörner, Marion, Hofmann, Sabine, Kleinle, Stephanie, Hegemann, Stephan, Weissert, Markus, MüLler-Höcker, Josef, Pongratz, Dieter, Gerbitz, Klus-Dieter

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Molekulare Autopsie nach plötzlichem Herztod: Ergänzende Untersuchungen nach unauffälligen Sektionsbefunden von Diebold, I., Pickl, J., Schön, U., Kleinle, S., Laner, A., Benet-Pages, A., Abicht, A., Skopp, G., Musshoff, F., Holinski-Feder, E.

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A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNASer(UCN) mutations in a subgroup... von JAKSCH, M, HOFMANN, S, KLEINLE, S, LIECHTI-GALLATI, S, PONGRATZ, D. E, MÜLLER-HÖCKER, J, JEDELE, K. B, MEITINGER, T, GERBITZ, K.-D

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Mitochondrial diseases represent a risk factor for valproate‐induced fulminant liver failure von Krähenbühl, Stephan, Brandner, Sebastian, Kleinle, Stephanie, Liechti, Sabina, Straumann, Dominik

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Verfahren und Einrichtung zur optischen Erfassung eines Fluiddots auf einem Substrat von Buss, W, Kleinle, S, Possner, T

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Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies von Taylor, Robert W, Pyle, Angela, Griffin, Helen, Blakely, Emma L, Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L, Neeve, Vivienne C, Best, Andrew, Yarham, John W, Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A. M, Vassallo, Grace, Gorman, Grainne S, Ramesh, Venkateswaran, Turnbull, Douglass M, Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F

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Cancer incidence and spectrum among children with genetically confirmed Beckwith-Wiedemann spectrum in Germany: a retrospective cohort study von Cöktü, Sümeyye, Spix, Claudia, Kaiser, Melanie, Beygo, Jasmin, Kleinle, Stephanie, Bachmann, Nadine, Kohlschmidt, Nicolai, Prawitt, Dirk, Beckmann, Alf, Klaes, Ruediger, Nevinny-Stickel-Hinzpeter, Claudia, Döhnert, Steffi, Kraus, Cornelia, Kadgien, Gundula, Vater, Inga, Biskup, Saskia, Kutsche, Michael, Kohlhase, Jürgen, Eggermann, Thomas, Zenker, Martin, Kratz, Christian P.

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