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Thomas Meitinger

Showing results (41-50 of 536) with videos related to

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Frontiers in Pediatrics|December 12, 2017
Identification of a Novel Heterozygous <i>De Novo</i> 7-bp Frameshift Deletion in <i>PBX1</i> by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic ClaviclesKorbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, et al.
American Journal of Medical Genetics. Part A|August 14, 2009
Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterizationMaja Hempel, Nuria Rivera Brugués, Janine Wagenstaller, et al.
Molecular Genetics and Metabolism|April 5, 2011
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiencyKatharina Danhauser, Arcangela Iuso, Tobias B Haack, et al.
Stroke|March 8, 2008
Genetic variation in soluble epoxide hydrolase (EPHX2) is associated with an increased risk of ischemic stroke in white EuropeansAndreas Gschwendtner, Stephan Ripke, Tobias Freilinger, et al.
Brain : a Journal of Neurology|June 26, 2021
MATR3 haploinsufficiency and early-onset neurodegenerationMichael Zech, Annette Seibt, Barbara Zumbaum, et al.
Clinical Chemistry and Laboratory Medicine|April 22, 2005
TaqMan assays for genotyping of single nucleotide polymorphisms present at a disease susceptibility locus on chromosome 6Werner Koch, Petra Hoppmann, Elena Michou, et al.
Epilepsia|June 17, 2008
A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsyFritz Zimprich, Elisabeth Stogmann, Silvia Bonelli, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprintedMonika Grabowski, Alexander Zimprich, Bettina Lorenz-Depiereux, et al.
European Journal of Human Genetics : EJHG|May 11, 2017
Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limbMuhammad Umair, Khadim Shah, Bader Alhaddad, et al.
Human Mutation|April 23, 2009
Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E geneLars G Fritsche, Sandra Freitag-Wolf, Thomas Bettecken, et al.
Pageof 54

Showing results (41-50 of 536) with videos related to

Sort By:
Pageof 54
Frontiers in Pediatrics|December 12, 2017
Identification of a Novel Heterozygous <i>De Novo</i> 7-bp Frameshift Deletion in <i>PBX1</i> by Whole-Exome Sequencing Causing a Multi-Organ Syndrome Including Bilateral Dysplastic Kidneys and Hypoplastic ClaviclesKorbinian Maria Riedhammer, Corinna Siegel, Bader Alhaddad, et al.
American Journal of Medical Genetics. Part A|August 14, 2009
Microdeletion syndrome 16p11.2-p12.2: clinical and molecular characterizationMaja Hempel, Nuria Rivera Brugués, Janine Wagenstaller, et al.
Molecular Genetics and Metabolism|April 5, 2011
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiencyKatharina Danhauser, Arcangela Iuso, Tobias B Haack, et al.
Stroke|March 8, 2008
Genetic variation in soluble epoxide hydrolase (EPHX2) is associated with an increased risk of ischemic stroke in white EuropeansAndreas Gschwendtner, Stephan Ripke, Tobias Freilinger, et al.
Brain : a Journal of Neurology|June 26, 2021
MATR3 haploinsufficiency and early-onset neurodegenerationMichael Zech, Annette Seibt, Barbara Zumbaum, et al.
Clinical Chemistry and Laboratory Medicine|April 22, 2005
TaqMan assays for genotyping of single nucleotide polymorphisms present at a disease susceptibility locus on chromosome 6Werner Koch, Petra Hoppmann, Elena Michou, et al.
Epilepsia|June 17, 2008
A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsyFritz Zimprich, Elisabeth Stogmann, Silvia Bonelli, et al.
European Journal of Human Genetics : EJHG|March 14, 2003
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprintedMonika Grabowski, Alexander Zimprich, Bettina Lorenz-Depiereux, et al.
European Journal of Human Genetics : EJHG|May 11, 2017
Exome sequencing revealed a splice site variant in the IQCE gene underlying post-axial polydactyly type A restricted to lower limbMuhammad Umair, Khadim Shah, Bader Alhaddad, et al.
Human Mutation|April 23, 2009
Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E geneLars G Fritsche, Sandra Freitag-Wolf, Thomas Bettecken, et al.
Pageof 54