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Thomas Meitinger

Showing results (221-230 of 508) with videos related to

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Oncotarget|December 13, 2017
Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomasPhilipp Hofer, Michael Hagmann, Stefanie Brezina, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Neuron|November 16, 2004
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathologyAlexander Zimprich, Saskia Biskup, Petra Leitner, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarraysAnneke I den Hollander, Irma Lopez, Suzanne Yzer, et al.
European Journal of Human Genetics : EJHG|June 24, 2010
Genes predict village of origin in rural EuropeColm O'Dushlaine, Ruth McQuillan, Michael E Weale, et al.
Science (New York, N.Y.)|April 15, 2006
A common genetic variant is associated with adult and childhood obesityAlan Herbert, Norman P Gerry, Matthew B McQueen, et al.
Journal of Medical Genetics|December 28, 2011
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9Tobias B Haack, Florence Madignier, Martina Herzer, et al.
American Journal of Human Genetics|October 11, 2011
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulationMonika B Hartig, Arcangela Iuso, Tobias Haack, et al.
Brain : a Journal of Neurology|January 18, 2021
Bi-allelic truncating mutations in VWA1 cause neuromyopathyMarcus Deschauer, Holger Hengel, Katrin Rupprich, et al.
Kidney International|April 24, 2009
Genome-wide linkage analysis of serum creatinine in three isolated European populationsCristian Pattaro, Yurii S Aulchenko, Aaron Isaacs, et al.
Pageof 51

Showing results (221-230 of 508) with videos related to

Sort By:
Pageof 51
Oncotarget|December 13, 2017
Bayesian and frequentist analysis of an Austrian genome-wide association study of colorectal cancer and advanced adenomasPhilipp Hofer, Michael Hagmann, Stefanie Brezina, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Neuron|November 16, 2004
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathologyAlexander Zimprich, Saskia Biskup, Petra Leitner, et al.
Investigative Ophthalmology & Visual Science|December 7, 2007
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarraysAnneke I den Hollander, Irma Lopez, Suzanne Yzer, et al.
European Journal of Human Genetics : EJHG|June 24, 2010
Genes predict village of origin in rural EuropeColm O'Dushlaine, Ruth McQuillan, Michael E Weale, et al.
Science (New York, N.Y.)|April 15, 2006
A common genetic variant is associated with adult and childhood obesityAlan Herbert, Norman P Gerry, Matthew B McQueen, et al.
Journal of Medical Genetics|December 28, 2011
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9Tobias B Haack, Florence Madignier, Martina Herzer, et al.
American Journal of Human Genetics|October 11, 2011
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulationMonika B Hartig, Arcangela Iuso, Tobias Haack, et al.
Brain : a Journal of Neurology|January 18, 2021
Bi-allelic truncating mutations in VWA1 cause neuromyopathyMarcus Deschauer, Holger Hengel, Katrin Rupprich, et al.
Kidney International|April 24, 2009
Genome-wide linkage analysis of serum creatinine in three isolated European populationsCristian Pattaro, Yurii S Aulchenko, Aaron Isaacs, et al.
Pageof 51