Miniature integrated micro-spectrometer array for snap shot multispectral sensing
Danz, N, Höfer, B, Förster, E, Flügel-Paul, T, Harzendorf, T, Dannberg, P, Leitel, R, Kleinle, S, Brunner, R
Published in Optics express (18.02.2019)
Published in Optics express (18.02.2019)
Get full text
Journal Article
Duplications of the Functional CYP21A2 Gene Are Primarily Restricted to Q318X Alleles: Evidence for a Founder Effect
Kleinle, S, Lang, R, Fischer, G. F, Vierhapper, H, Waldhauser, F, Födinger, M, Baumgartner-Parzer, S. M
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
Published in The journal of clinical endocrinology and metabolism (01.10.2009)
Get full text
Journal Article
A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease
Kleinle, S, Schneider, V, Moosmann, P, Brandner, S, Krähenbühl, S, Liechti-Gallati, S
Published in Biochemical and biophysical research communications (09.06.1998)
Published in Biochemical and biophysical research communications (09.06.1998)
Get full text
Journal Article
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
Jaksch, Michaela, Kleinle, Stephanie, Scharfe, Curt, Klopstock, Thomas, Pongratz, Dieter, Müller-Höcker, Josef, Gerbitz, Klaus-D, Liechti-Gallati, Sabina, Lochmuller, Hanns, Horvath, Rita
Published in Journal of medical genetics (01.10.2001)
Published in Journal of medical genetics (01.10.2001)
Get full text
Journal Article
Direct write grayscale lithography for arbitrary shaped micro-optical surfaces
Eckstein, H.-C, Stumpf, M., Schleicher, P., Kleinle, S., Matthes, A., Zeitner, U. D., Brauer, A.
Published in 2015 20th Microoptics Conference (MOC) (01.10.2015)
Published in 2015 20th Microoptics Conference (MOC) (01.10.2015)
Get full text
Conference Proceeding
Journal Article
Multi-Gene Panel Analysis in the Primary Diagnosis of Limb-Girdle Muscular Dystrophy
Mayer, V., Bulst, S., Nissen, A., Kleinle, S., Becker, K., Walter, M. C., Benet-Pagès, A., Abicht, A.
Published in Neuropediatrics (20.04.2016)
Published in Neuropediatrics (20.04.2016)
Get full text
Conference Proceeding
Molekulare Autopsie nach plötzlichem Herztod: Ergänzende Untersuchungen nach unauffälligen Sektionsbefunden
Diebold, I., Pickl, J., Schön, U., Kleinle, S., Laner, A., Benet-Pages, A., Abicht, A., Skopp, G., Musshoff, F., Holinski-Feder, E.
Published in Rechtsmedizin (Berlin, Germany) (01.08.2018)
Published in Rechtsmedizin (Berlin, Germany) (01.08.2018)
Get full text
Journal Article
Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene
Jaksch, M, Klopstock, T, Kurlemann, G, Dörner, M, Hofmann, S, Kleinle, S, Hegemann, S, Weissert, M, Müller-Höcker, J, Pongratz, D, Gerbitz, K D
Published in Annals of neurology (01.10.1998)
Published in Annals of neurology (01.10.1998)
Get more information
Journal Article
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 subgroup with syndromal encephalopathy
Jaksch, M, Hofmann, S, Kleinle, S, Liechti-Gallati, S, Pongratz, D E, Müller-Höcker, J, Jedele, K B, Meitinger, T, Gerbitz, K D
Published in Journal of medical genetics (01.11.1998)
Published in Journal of medical genetics (01.11.1998)
Get full text
Journal Article
Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndrome
Krähenbühl, Stephan, Kleinle, Stephanie, Henz, Samuel, Leibundgut, Kurt, Liechti, Sabina, Zimmermann, Arthur, Wiesmann, Ulrich
Published in Journal of hepatology (01.09.1999)
Published in Journal of hepatology (01.09.1999)
Get full text
Journal Article
Problems in detecting mosaic DNA methylation in Angelman syndrome
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
Published in European journal of human genetics : EJHG (01.12.2003)
Published in European journal of human genetics : EJHG (01.12.2003)
Get full text
Journal Article
A Novel Mitochondrial tRNAPheMutation Inhibiting Anticodon Stem Formation Associated with a Muscle Disease
Kleinle, S., Schneider, V., Moosmann, P., Brandner, S., Krähenbühl, S., Liechti-Gallati, S.
Published in Biochemical and biophysical research communications (09.06.1998)
Published in Biochemical and biophysical research communications (09.06.1998)
Get full text
Journal Article
Hyperventilation due to mitochondrial myopathy
Moosmann, Peter, Brandner, Sebastian, Kleinle, Stephani, Frauchiger, Beat
Published in Journal of the Royal Society of Medicine (01.01.2000)
Published in Journal of the Royal Society of Medicine (01.01.2000)
Get full text
Journal Article
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 with syndromal encephalopathy
JAKSCH, M, HOFMANN, S, KLEINLE, S, LIECHTI-GALLATI, S, PONGRATZ, D. E, MÜLLER-HÖCKER, J, JEDELE, K. B, MEITINGER, T, GERBITZ, K.-D
Published in Journal of medical genetics (1998)
Get full text
Published in Journal of medical genetics (1998)
Journal Article
Combined 3-methylglutaconic and 3-hydroxy-3-methylglutaric aciduria with endocardial fibroelastosis and dilatative cardiomyopathy in male and female siblings with partial deficiency of complex II/III in fibroblasts
Ruesch, S, Krähenbühl, S, Kleinle, S, Liechti-Gallati, S, Schaffner, T, Wermuth, B, Weber, J, Wiesmann, U N
Published in Enzyme & protein (1996)
Published in Enzyme & protein (1996)
Get more information
Journal Article
Piston
MARQUARDT MICHAEL, HETTICH THOMAS, BRAIG RALF, KLEINLE PETER, FISCHER RAINER
Year of Publication 16.04.2014
Get full text
Year of Publication 16.04.2014
Patent