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Holger Prokisch

Showing results (321-330 of 370) with videos related to

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The Journal of Clinical Investigation|November 26, 2013
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruptionShazia Ashraf, Heon Yung Gee, Stephanie Woerner, et al.
Human Mutation|September 24, 2017
Molecular and clinical spectra of FBXL4 deficiencyAyman W El-Hattab, Hongzheng Dai, Mohammed Almannai, et al.
American Journal of Human Genetics|June 4, 2016
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain DeficiencyRikke K J Olsen, Eliška Koňaříková, Teresa A Giancaspero, et al.
Human Molecular Genetics|November 17, 2021
Associations of carotid intima media thickness with gene expression in whole blood and genetically predicted gene expression across 48 tissuesAndy B Castaneda, Lauren E Petty, Markus Scholz, et al.
The Journal of Clinical Investigation|September 25, 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderValentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.
EMBO Molecular Medicine|November 9, 2021
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypesSilvia Vidali, Raffaele Gerlini, Kyle Thompson, et al.
Thyroid : Official Journal of the American Thyroid Association|January 31, 2023
Epigenome-Wide Association Study Reveals CpG Sites Associated with Thyroid Function and Regulatory Effects on <i>KLF9</i>Antoine Weihs, Layal Chaker, Tiphaine C Martin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeTheresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
JAMA Cardiology|April 5, 2018
Association of Methylation Signals With Incident Coronary Heart Disease in an Epigenome-Wide Assessment of Circulating Tumor Necrosis Factor αStella Aslibekyan, Golareh Agha, Elena Colicino, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.
Pageof 37

Showing results (321-330 of 370) with videos related to

Sort By:
Pageof 37
The Journal of Clinical Investigation|November 26, 2013
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruptionShazia Ashraf, Heon Yung Gee, Stephanie Woerner, et al.
Human Mutation|September 24, 2017
Molecular and clinical spectra of FBXL4 deficiencyAyman W El-Hattab, Hongzheng Dai, Mohammed Almannai, et al.
American Journal of Human Genetics|June 4, 2016
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain DeficiencyRikke K J Olsen, Eliška Koňaříková, Teresa A Giancaspero, et al.
Human Molecular Genetics|November 17, 2021
Associations of carotid intima media thickness with gene expression in whole blood and genetically predicted gene expression across 48 tissuesAndy B Castaneda, Lauren E Petty, Markus Scholz, et al.
The Journal of Clinical Investigation|September 25, 2019
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorderValentina Del Dotto, Farid Ullah, Ivano Di Meo, et al.
EMBO Molecular Medicine|November 9, 2021
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypesSilvia Vidali, Raffaele Gerlini, Kyle Thompson, et al.
Thyroid : Official Journal of the American Thyroid Association|January 31, 2023
Epigenome-Wide Association Study Reveals CpG Sites Associated with Thyroid Function and Regulatory Effects on <i>KLF9</i>Antoine Weihs, Layal Chaker, Tiphaine C Martin, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2023
De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset strokeTheresa Brunet, Benedikt Zott, Victoria Lieftüchter, et al.
JAMA Cardiology|April 5, 2018
Association of Methylation Signals With Incident Coronary Heart Disease in an Epigenome-Wide Assessment of Circulating Tumor Necrosis Factor αStella Aslibekyan, Golareh Agha, Elena Colicino, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathyRobert Kopajtich, Thomas J Nicholls, Joanna Rorbach, et al.
Pageof 37