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Journal of the Royal Society of Medicine
|
March 4, 2000
Hyperventilation due to mitochondrial myopathy
P Moosmann, S Brandner, S Kleinle, et al.
Liver
|
August 26, 2000
Mitochondrial diseases represent a risk factor for valproate-induced fulminant liver failure
S 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 disease
S 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 syndrome
S 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 PCR
S 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 effect
S 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 fibroblasts
S Ruesch, S Krähenbühl, S Kleinle, et al.
Optics Express
|
March 17, 2019
Miniature integrated micro-spectrometer array for snap shot multispectral sensing
N 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 encephalopathy
M 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 deficiencies
M Jaksch, S Kleinle, C Scharfe, et al.
Page
of 2
Search research articles
Search
Showing results (1-10 of 11) with videos related to
Sort By:
Page
of 2
Journal of the Royal Society of Medicine
|
March 4, 2000
Hyperventilation due to mitochondrial myopathy
P Moosmann, S Brandner, S Kleinle, et al.
Liver
|
August 26, 2000
Mitochondrial diseases represent a risk factor for valproate-induced fulminant liver failure
S 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 disease
S 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 syndrome
S 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 PCR
S 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 effect
S 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 fibroblasts
S Ruesch, S Krähenbühl, S Kleinle, et al.
Optics Express
|
March 17, 2019
Miniature integrated micro-spectrometer array for snap shot multispectral sensing
N 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 encephalopathy
M 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 deficiencies
M Jaksch, S Kleinle, C Scharfe, et al.
Page
of 2