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Sara Seneca

Showing results (81-90 of 88) with videos related to

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Brain : a Journal of Neurology|August 20, 2025
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathyCamila Armirola-Ricaurte, Laura Morant, Isabelle Adant, et al.
Pediatric Neurology|July 4, 2024
Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult PatientsNathalie Smeets, Alexander Gheldof, Bart Dequeker, et al.
Frontiers in Genetics|April 29, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiencyUwe Ahting, Johannes A Mayr, Arnaud V Vanlander, et al.
Nucleic Acids Research|June 28, 2018
Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cellsSumitava Dastidar, Simon Ardui, Kshitiz Singh, et al.
Human Mutation|June 20, 2003
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patientsHong-Zhi Gao, Keiko Kobayashi, Ayako Tabata, et al.
American Journal of Human Genetics|July 5, 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeCharlotte L Alston, Alison G Compton, Luke E Formosa, et al.
European Journal of Human Genetics : EJHG|February 25, 2010
EMQN Best Practice Guidelines for molecular genetic testing of SCAsJorge Sequeiros, Joanne Martindale, Sara Seneca, et al.
Orphanet Journal of Rare Diseases|July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
Pageof 9

Showing results (81-90 of 88) with videos related to

Sort By:
Pageof 9
You have reached the last page of results.This site can display upto 88 results.
Brain : a Journal of Neurology|August 20, 2025
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathyCamila Armirola-Ricaurte, Laura Morant, Isabelle Adant, et al.
Pediatric Neurology|July 4, 2024
Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult PatientsNathalie Smeets, Alexander Gheldof, Bart Dequeker, et al.
Frontiers in Genetics|April 29, 2015
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiencyUwe Ahting, Johannes A Mayr, Arnaud V Vanlander, et al.
Nucleic Acids Research|June 28, 2018
Efficient CRISPR/Cas9-mediated editing of trinucleotide repeat expansion in myotonic dystrophy patient-derived iPS and myogenic cellsSumitava Dastidar, Simon Ardui, Kshitiz Singh, et al.
Human Mutation|June 20, 2003
Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patientsHong-Zhi Gao, Keiko Kobayashi, Ayako Tabata, et al.
American Journal of Human Genetics|July 5, 2016
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical PhenotypeCharlotte L Alston, Alison G Compton, Luke E Formosa, et al.
European Journal of Human Genetics : EJHG|February 25, 2010
EMQN Best Practice Guidelines for molecular genetic testing of SCAsJorge Sequeiros, Joanne Martindale, Sara Seneca, et al.
Orphanet Journal of Rare Diseases|July 21, 2018
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Birgit M Repp, Elisa Mastantuono, Charlotte L Alston, et al.
Pageof 9