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Thomas Meitinger

Showing results (131-140 of 508) with videos related to

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Biochimica Et Biophysica Acta|December 30, 2008
Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial importUwe Ahting, Thomas Floss, Nikolas Uez, et al.
Atherosclerosis|July 5, 2015
Associations between calcium and vitamin D supplement use as well as their serum concentrations and subclinical cardiovascular disease phenotypesInke Thiele, Jakob Linseisen, Christa Meisinger, et al.
Clinical Kidney Journal|July 5, 2021
Serum uromodulin is inversely associated with biomarkers of subclinical inflammation in the population-based KORA F4 studyCornelia Then, Christian Herder, Holger Then, et al.
Journal of Medical Genetics|October 6, 2010
Cohen syndrome diagnosis using whole genome arraysNuria Rivera-Brugués, Beate Albrecht, Dagmar Wieczorek, et al.
Annals of Neurology|January 27, 2006
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulationMonika B Hartig, Konstanze Hörtnagel, Barbara Garavaglia, et al.
European Journal of Human Genetics : EJHG|September 5, 2020
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGSMatthias Christoph Braunisch, Korbinian Maria Riedhammer, Pierre-Maurice Herr, et al.
Circulation. Cardiovascular Genetics|August 18, 2016
Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?Lia Crotti, Annukka M Lahtinen, Carla Spazzolini, et al.
Journal of Inherited Metabolic Disease|August 7, 2012
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndromeTobias B Haack, Christine Makowski, Yoshiaki Yao, et al.
European Heart Journal|January 29, 2008
The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG)Moritz F Sinner, Arne Pfeufer, Mahmut Akyol, et al.
Journal of Inherited Metabolic Disease|May 8, 2012
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblingsTobias B Haack, Boris Rolinski, Birgit Haberberger, et al.
Pageof 51

Showing results (131-140 of 508) with videos related to

Sort By:
Pageof 51
Biochimica Et Biophysica Acta|December 30, 2008
Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial importUwe Ahting, Thomas Floss, Nikolas Uez, et al.
Atherosclerosis|July 5, 2015
Associations between calcium and vitamin D supplement use as well as their serum concentrations and subclinical cardiovascular disease phenotypesInke Thiele, Jakob Linseisen, Christa Meisinger, et al.
Clinical Kidney Journal|July 5, 2021
Serum uromodulin is inversely associated with biomarkers of subclinical inflammation in the population-based KORA F4 studyCornelia Then, Christian Herder, Holger Then, et al.
Journal of Medical Genetics|October 6, 2010
Cohen syndrome diagnosis using whole genome arraysNuria Rivera-Brugués, Beate Albrecht, Dagmar Wieczorek, et al.
Annals of Neurology|January 27, 2006
Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulationMonika B Hartig, Konstanze Hörtnagel, Barbara Garavaglia, et al.
European Journal of Human Genetics : EJHG|September 5, 2020
Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGSMatthias Christoph Braunisch, Korbinian Maria Riedhammer, Pierre-Maurice Herr, et al.
Circulation. Cardiovascular Genetics|August 18, 2016
Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?Lia Crotti, Annukka M Lahtinen, Carla Spazzolini, et al.
Journal of Inherited Metabolic Disease|August 7, 2012
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndromeTobias B Haack, Christine Makowski, Yoshiaki Yao, et al.
European Heart Journal|January 29, 2008
The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG)Moritz F Sinner, Arne Pfeufer, Mahmut Akyol, et al.
Journal of Inherited Metabolic Disease|May 8, 2012
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblingsTobias B Haack, Boris Rolinski, Birgit Haberberger, et al.
Pageof 51