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Knut Brockmann

Showing results (51-60 of 125) with videos related to

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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.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|February 1, 2025
Increase in EEG functional connectivity and power during wakefulness in self-limited epilepsy with centrotemporal spikesDavid Garnica-Agudelo, Stuart D W Smith, Daniel van de Velden, et al.
Epilepsia|August 16, 2002
EEG features of glut-1 deficiency syndromeArpad von Moers, Knut Brockmann, Dong Wang, et al.
Molecular Cytogenetics|October 29, 2014
Intragenic duplication of EHMT1 gene results in Kleefstra syndromeEva Maria Christina Schwaibold, Mateja Smogavec, Elke Hobbiebrunken, et al.
Cell Metabolism|June 24, 2014
The LYR factors SDHAF1 and SDHAF3 mediate maturation of the iron-sulfur subunit of succinate dehydrogenaseUn Na, Wendou Yu, James Cox, et al.
Human Molecular Genetics|April 8, 2014
CHARGE and Kabuki syndromes: a phenotypic and molecular linkYvonne Schulz, Luisa Freese, Johanna Mänz, et al.
Molecular Cytogenetics|March 17, 2009
Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardationBernd Auber, Verena Bruemmer, Barbara Zoll, et al.
American Journal of Medical Genetics. Part A|January 17, 2012
A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathyMoneef Shoukier, Julia Schröder, Barbara Zoll, et al.
Orphanet Journal of Rare Diseases|February 5, 2021
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathyMarie-Christine Reinert, David Pacheu-Grau, Claudia B Catarino, et al.
Journal of Child Neurology|April 10, 2004
Actin-related myopathy without any missense mutation in the ACTA1 geneHans H Goebel, Knut Brockmann, Carsten G Bönnemann, et al.
Pageof 13

Showing results (51-60 of 125) with videos related to

Sort By:
Pageof 13
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.
Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|February 1, 2025
Increase in EEG functional connectivity and power during wakefulness in self-limited epilepsy with centrotemporal spikesDavid Garnica-Agudelo, Stuart D W Smith, Daniel van de Velden, et al.
Epilepsia|August 16, 2002
EEG features of glut-1 deficiency syndromeArpad von Moers, Knut Brockmann, Dong Wang, et al.
Molecular Cytogenetics|October 29, 2014
Intragenic duplication of EHMT1 gene results in Kleefstra syndromeEva Maria Christina Schwaibold, Mateja Smogavec, Elke Hobbiebrunken, et al.
Cell Metabolism|June 24, 2014
The LYR factors SDHAF1 and SDHAF3 mediate maturation of the iron-sulfur subunit of succinate dehydrogenaseUn Na, Wendou Yu, James Cox, et al.
Human Molecular Genetics|April 8, 2014
CHARGE and Kabuki syndromes: a phenotypic and molecular linkYvonne Schulz, Luisa Freese, Johanna Mänz, et al.
Molecular Cytogenetics|March 17, 2009
Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardationBernd Auber, Verena Bruemmer, Barbara Zoll, et al.
American Journal of Medical Genetics. Part A|January 17, 2012
A de novo interstitial deletion of 2p23.3-24.3 in a boy presenting with intellectual disability, overgrowth, dysmorphic features, skeletal myopathy, dilated cardiomyopathyMoneef Shoukier, Julia Schröder, Barbara Zoll, et al.
Orphanet Journal of Rare Diseases|February 5, 2021
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathyMarie-Christine Reinert, David Pacheu-Grau, Claudia B Catarino, et al.
Journal of Child Neurology|April 10, 2004
Actin-related myopathy without any missense mutation in the ACTA1 geneHans H Goebel, Knut Brockmann, Carsten G Bönnemann, et al.
Pageof 13