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S Kleinle

Showing results (1-10 of 11) with videos related to

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Journal of the Royal Society of Medicine|March 4, 2000
Hyperventilation due to mitochondrial myopathyP Moosmann, S Brandner, S Kleinle, et al.
Liver|August 26, 2000
Mitochondrial diseases represent a risk factor for valproate-induced fulminant liver failureS Krähenbühl, S Brandner, S Kleinle, et al.
Biochemical and Biophysical Research Communications|June 24, 1998
A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle diseaseS Kleinle, V Schneider, P Moosmann, et al.
Journal of Hepatology|September 17, 1999
Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndromeS Krähenbühl, S Kleinle, S Henz, et al.
Human Genetics|October 28, 1997
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCRS Kleinle, U Wiesmann, A Superti-Furga, et al.
The Journal of Clinical Endocrinology and Metabolism|September 24, 2009
Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effectS Kleinle, R Lang, G F Fischer, et al.
Enzyme & Protein|January 1, 1996
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 fibroblastsS Ruesch, S Krähenbühl, S Kleinle, et al.
Optics Express|March 17, 2019
Miniature integrated micro-spectrometer array for snap shot multispectral sensingN Danz, B Höfer, E Förster, et al.
Journal of Medical Genetics|December 1, 1998
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 encephalopathyM Jaksch, S Hofmann, S Kleinle, et al.
Journal of Medical Genetics|October 5, 2001
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficienciesM Jaksch, S Kleinle, C Scharfe, et al.
Pageof 2

Showing results (1-10 of 11) with videos related to

Sort By:
Pageof 2
Journal of the Royal Society of Medicine|March 4, 2000
Hyperventilation due to mitochondrial myopathyP Moosmann, S Brandner, S Kleinle, et al.
Liver|August 26, 2000
Mitochondrial diseases represent a risk factor for valproate-induced fulminant liver failureS Krähenbühl, S Brandner, S Kleinle, et al.
Biochemical and Biophysical Research Communications|June 24, 1998
A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle diseaseS Kleinle, V Schneider, P Moosmann, et al.
Journal of Hepatology|September 17, 1999
Microvesicular steatosis, hemosiderosis and rapid development of liver cirrhosis in a patient with Pearson's syndromeS Krähenbühl, S Kleinle, S Henz, et al.
Human Genetics|October 28, 1997
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCRS Kleinle, U Wiesmann, A Superti-Furga, et al.
The Journal of Clinical Endocrinology and Metabolism|September 24, 2009
Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effectS Kleinle, R Lang, G F Fischer, et al.
Enzyme & Protein|January 1, 1996
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 fibroblastsS Ruesch, S Krähenbühl, S Kleinle, et al.
Optics Express|March 17, 2019
Miniature integrated micro-spectrometer array for snap shot multispectral sensingN Danz, B Höfer, E Förster, et al.
Journal of Medical Genetics|December 1, 1998
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 encephalopathyM Jaksch, S Hofmann, S Kleinle, et al.
Journal of Medical Genetics|October 5, 2001
Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficienciesM Jaksch, S Kleinle, C Scharfe, et al.
Pageof 2