Concepedia

Stephanie Kleinle

SK

25

Publications

1.7K

Citations

21

H-Index

1996

Active since

Affiliations

Medical Genetics Center(Current)

Newcastle University

Wellcome Centre for Mitochondrial Research

University of Bern

University Medical Center Freiburg

Stephanie Kleinle is an author at Medical Genetics Center specializing in medicine, genetics, and pathology.

ORCID

Top concepts

Publications per year

1996–2022

25

Publications

25

Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

Robert W. Taylor, Angela Pyle, Helen Griffin et al. · JAMA · 2014 · 361 citations · Full text

Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Matthias Begemann, Faisal I. Rezwan, Jasmin Beygo et al. · Journal of Medical Genetics · 2018 · 164 citations · Full text

Mitochondrial diseases represent a risk factor for valproate‐induced fulminant liver failure

Stephan Krähenbühl, Sebastian Brandner, Stephanie Kleinle et al. · Liver International · 2000 · 117 citations

Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA<sup>ser(UCN)</sup> gene

Michaela Jaksch, Thomas Klopstock, G Kurlemann et al. · Annals of Neurology · 1998 · 109 citations · Full text

Delineating <i>MT-ATP6</i> -associated disease

Claudia Stendel, Christiane Neuhofer, Elisa Floride et al. · Neurology Genetics · 2020 · 104 citations · Full text

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