Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Sara Seneca

Showing results (41-50 of 88) with videos related to

Pageof 9
Sort By:
Human Genetics|July 20, 2014
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivationNathalie Fieremans, Marijke Bauters, Stefanie Belet, et al.
The Turkish Journal of Pediatrics|May 4, 2011
A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndromeMustafa Kiliç, Hatice Serap Sivri, Ali Dursun, et al.
Neurology. Genetics|December 21, 2018
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in <i>MTFMT</i>Dimitri M Hemelsoet, Arnaud V Vanlander, Joél Smet, et al.
European Journal of Human Genetics : EJHG|March 27, 2014
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?Sara Seneca, Kim Vancampenhout, Rudy Van Coster, et al.
Phytotherapy Research : PTR|April 27, 2013
Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defectsBoel De Paepe, Katrien Vandemeulebroecke, Joél Smet, et al.
European Journal of Medical Genetics|June 9, 2018
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformationsKatrien Stouffs, Stéphanie Moortgat, Tim Vanderhasselt, et al.
European Journal of Human Genetics : EJHG|April 16, 2009
Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to childMarjan De Rademaeker, Willem Verpoest, Martine De Rycke, et al.
Pediatric Research|June 26, 2012
Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defectsBoel De Paepe, Joél Smet, Arnaud Vanlander, et al.
The Journal of Molecular Diagnostics : JMD|August 28, 2012
Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround timeSara Seneca, Willy Lissens, Kristof Endels, et al.
Applied Spectroscopy|January 17, 2018
Near-Infrared Spectroscopy Screening to Allow Detection of Pathogenic Mitochondrial DNA Variants in Individuals with Unexplained Abnormal Fatigue: A Preliminary StudyBert M Celie, An Mariman, Jan Boone, et al.
Pageof 9

Showing results (41-50 of 88) with videos related to

Sort By:
Pageof 9
Human Genetics|July 20, 2014
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivationNathalie Fieremans, Marijke Bauters, Stefanie Belet, et al.
The Turkish Journal of Pediatrics|May 4, 2011
A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndromeMustafa Kiliç, Hatice Serap Sivri, Ali Dursun, et al.
Neurology. Genetics|December 21, 2018
Leigh syndrome followed by parkinsonism in an adult with homozygous c.626C>T mutation in <i>MTFMT</i>Dimitri M Hemelsoet, Arnaud V Vanlander, Joél Smet, et al.
European Journal of Human Genetics : EJHG|March 27, 2014
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench?Sara Seneca, Kim Vancampenhout, Rudy Van Coster, et al.
Phytotherapy Research : PTR|April 27, 2013
Effect of resveratrol on cultured skin fibroblasts from patients with oxidative phosphorylation defectsBoel De Paepe, Katrien Vandemeulebroecke, Joél Smet, et al.
European Journal of Medical Genetics|June 9, 2018
Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformationsKatrien Stouffs, Stéphanie Moortgat, Tim Vanderhasselt, et al.
European Journal of Human Genetics : EJHG|April 16, 2009
Preimplantation genetic diagnosis for myotonic dystrophy type 1: upon request to childMarjan De Rademaeker, Willem Verpoest, Martine De Rycke, et al.
Pediatric Research|June 26, 2012
Fluorescence imaging of mitochondria in cultured skin fibroblasts: a useful method for the detection of oxidative phosphorylation defectsBoel De Paepe, Joél Smet, Arnaud Vanlander, et al.
The Journal of Molecular Diagnostics : JMD|August 28, 2012
Reliable and sensitive detection of fragile X (expanded) alleles in clinical prenatal DNA samples with a fast turnaround timeSara Seneca, Willy Lissens, Kristof Endels, et al.
Applied Spectroscopy|January 17, 2018
Near-Infrared Spectroscopy Screening to Allow Detection of Pathogenic Mitochondrial DNA Variants in Individuals with Unexplained Abnormal Fatigue: A Preliminary StudyBert M Celie, An Mariman, Jan Boone, et al.
Pageof 9