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Holger Prokisch

Showing results (251-260 of 395) with videos related to

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Plos One|May 31, 2014
Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndromeEva C Schulte, Katharina Schramm, Claudia Schurmann, et al.
American Journal of Human Genetics|December 24, 2013
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulationSabrina Dusi, Lorella Valletta, Tobias B Haack, et al.
Annals of Neurology|March 9, 2018
Recessive mutations in VPS13D cause childhood onset movement disordersJulie Gauthier, Inge A Meijer, Davor Lessel, et al.
American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.
Frontiers in Genetics|April 29, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiencyUwe Ahting, Johannes A Mayr, Arnaud V Vanlander, et al.
Journal of Medical Genetics|August 19, 2018
Bi-allelic mutations in <i>TRAPPC2L</i> result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblastsMiroslav P Milev, Claudio Graziano, Daniela Karall, et al.
Human Mutation|September 15, 2017
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathySaskia B Wortmann, Sharita Timal, Hanka Venselaar, et al.
Atherosclerosis|August 8, 2009
Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery diseasePatrick Linsel-Nitschke, Jörg Heeren, Zouhair Aherrahrou, et al.
Plos One|November 9, 2016
Epigenetic Signatures at AQP3 and SOCS3 Engage in Low-Grade Inflammation across Different TissuesCarola Marzi, Lesca M Holdt, Giovanni Fiorito, et al.
Brain : a Journal of Neurology|February 11, 2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndromeSarah L Stenton, Marketa Tesarova, Natalia L Sheremet, et al.
Pageof 40

Showing results (251-260 of 395) with videos related to

Sort By:
Pageof 40
Plos One|May 31, 2014
Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndromeEva C Schulte, Katharina Schramm, Claudia Schurmann, et al.
American Journal of Human Genetics|December 24, 2013
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulationSabrina Dusi, Lorella Valletta, Tobias B Haack, et al.
Annals of Neurology|March 9, 2018
Recessive mutations in VPS13D cause childhood onset movement disordersJulie Gauthier, Inge A Meijer, Davor Lessel, et al.
American Journal of Human Genetics|July 21, 2015
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesChristopher A Powell, Robert Kopajtich, Aaron R D'Souza, et al.
Frontiers in Genetics|April 29, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiencyUwe Ahting, Johannes A Mayr, Arnaud V Vanlander, et al.
Journal of Medical Genetics|August 19, 2018
Bi-allelic mutations in <i>TRAPPC2L</i> result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblastsMiroslav P Milev, Claudio Graziano, Daniela Karall, et al.
Human Mutation|September 15, 2017
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathySaskia B Wortmann, Sharita Timal, Hanka Venselaar, et al.
Atherosclerosis|August 8, 2009
Genetic variation at chromosome 1p13.3 affects sortilin mRNA expression, cellular LDL-uptake and serum LDL levels which translates to the risk of coronary artery diseasePatrick Linsel-Nitschke, Jörg Heeren, Zouhair Aherrahrou, et al.
Plos One|November 9, 2016
Epigenetic Signatures at AQP3 and SOCS3 Engage in Low-Grade Inflammation across Different TissuesCarola Marzi, Lesca M Holdt, Giovanni Fiorito, et al.
Brain : a Journal of Neurology|February 11, 2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndromeSarah L Stenton, Marketa Tesarova, Natalia L Sheremet, et al.
Pageof 40