Concepedia

Konstanze Hoertnagel

KH

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Publications

12

Citations

1.2K

H-Index

12

Active since

1998

Affiliations

Ludwig-Maximilians-Universität München(Current)

CeGaT (Germany)

Fondazione IRCCS Istituto Neurologico Carlo Besta

Paracelsus Medical University

Konstanze Hoertnagel is an author at Ludwig-Maximilians-Universität München specializing in medicine, genetics, and social sciences.

Top concepts

MedicineGeneticsNeurologyPathologyNeuroscienceNeurogeneticsNeuropathologySocial SciencesMolecular GeneticsBiology

Publications per year

1998–2020

12

Publications

12

Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

Valeria Tiranti, Konstanze Hoertnagel, Rosalba Carrozzo et al. · The American Journal of Human Genetics · 1998 · 525 citations · Full text

Mendelian Disorder, Disease Mechanism, Genetic Disorder +9

Burkitt Lymphoma in the Mouse

Alexander L. Kovalchuk, Chen‐Feng Qi, Ted A. Torrey et al. · The Journal of Experimental Medicine · 2000 · 209 citations · Full text

Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency

Valeria Tiranti, Michaela Jaksch, Sabine Hofmann et al. · Annals of Neurology · 1999 · 119 citations

FOXG1 syndrome: genotype–phenotype association in 83 patients with FOXG1 variants

Diana Mitter, Milka Pringsheim, Marc Kaulisch et al. · Genetics in Medicine · 2017 · 108 citations · Full text

Genetic Disorder, Genetics, Genetic Epidemiology +8

PEDIA: prioritization of exome data by image analysis

Tzung‐Chien Hsieh, Martin A. Mensah, Jean Tori Pantel et al. · Genetics in Medicine · 2019 · 86 citations · Full text

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