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Sara Seneca

Showing results (71-80 of 88) with videos related to

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BMC Clinical Pathology|June 9, 2009
Mitochondrial mosaics in the liver of 3 infants with mtDNA defectsFrank Roels, Patrick Verloo, François Eyskens, et al.
Journal of Inherited Metabolic Disease|July 6, 2019
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolismElizabeth Jennions, Carola Hedberg-Oldfors, Anna-Karin Berglund, et al.
Molecular Genetics and Metabolism|November 12, 2017
New insights into the phenotype of FARS2 deficiencyElise Vantroys, Austin Larson, Marisa Friederich, et al.
BMC Genomics|January 29, 2008
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiencyAlena Cízková, Viktor Stránecký, Robert Ivánek, et al.
Human Mutation|November 12, 2014
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)Arnaud V Vanlander, Björn Menten, Joél Smet, et al.
Nature Communications|February 9, 2024
Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweightJoke Mertens, Florence Belva, Aafke P A van Montfoort, et al.
Life Science Alliance|January 27, 2019
Mitochondrial stress response triggered by defects in protein synthesis quality controlUwe Richter, Kah Ying Ng, Fumi Suomi, et al.
JMIR Medical Informatics|July 13, 2021
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics CentersJoséphine Lantoine, Anne Brysse, Vinciane Dideberg, et al.
American Journal of Human Genetics|March 5, 2017
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic DystrophyLise Barbé, Stella Lanni, Arturo López-Castel, et al.
American Journal of Human Genetics|March 22, 2016
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyChristiane Kuschal, Elena Botta, Donata Orioli, et al.
Pageof 9

Showing results (71-80 of 88) with videos related to

Sort By:
Pageof 9
BMC Clinical Pathology|June 9, 2009
Mitochondrial mosaics in the liver of 3 infants with mtDNA defectsFrank Roels, Patrick Verloo, François Eyskens, et al.
Journal of Inherited Metabolic Disease|July 6, 2019
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolismElizabeth Jennions, Carola Hedberg-Oldfors, Anna-Karin Berglund, et al.
Molecular Genetics and Metabolism|November 12, 2017
New insights into the phenotype of FARS2 deficiencyElise Vantroys, Austin Larson, Marisa Friederich, et al.
BMC Genomics|January 29, 2008
Development of a human mitochondrial oligonucleotide microarray (h-MitoArray) and gene expression analysis of fibroblast cell lines from 13 patients with isolated F1Fo ATP synthase deficiencyAlena Cízková, Viktor Stránecký, Robert Ivánek, et al.
Human Mutation|November 12, 2014
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)Arnaud V Vanlander, Björn Menten, Joél Smet, et al.
Nature Communications|February 9, 2024
Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweightJoke Mertens, Florence Belva, Aafke P A van Montfoort, et al.
Life Science Alliance|January 27, 2019
Mitochondrial stress response triggered by defects in protein synthesis quality controlUwe Richter, Kah Ying Ng, Fumi Suomi, et al.
JMIR Medical Informatics|July 13, 2021
Frequency of Participation in External Quality Assessment Programs Focused on Rare Diseases: Belgian Guidelines for Human Genetics CentersJoséphine Lantoine, Anne Brysse, Vinciane Dideberg, et al.
American Journal of Human Genetics|March 5, 2017
CpG Methylation, a Parent-of-Origin Effect for Maternal-Biased Transmission of Congenital Myotonic DystrophyLise Barbé, Stella Lanni, Arturo López-Castel, et al.
American Journal of Human Genetics|March 22, 2016
GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyChristiane Kuschal, Elena Botta, Donata Orioli, et al.
Pageof 9