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Beril Talim

Showing results (111-120 of 118) with videos related to

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Human Molecular Genetics|October 10, 2013
Recessive TTN truncating mutations define novel forms of core myopathy with heart diseaseClaire Chauveau, Carsten G Bonnemann, Cedric Julien, et al.
Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.
JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, et al.
American Journal of Human Genetics|June 4, 2016
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain DeficiencyRikke K J Olsen, Eliška Koňaříková, Teresa A Giancaspero, et al.
American Journal of Human Genetics|October 18, 2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationGina L O'Grady, Heather A Best, Tamar E Sztal, et al.
American Journal of Human Genetics|June 11, 2013
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathyGianina Ravenscroft, Satoko Miyatake, Vilma-Lotta Lehtokari, et al.
American Journal of Human Genetics|May 26, 2021
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathyHui Hui Wong, Sze Hwee Seet, Michael Maier, et al.
American Journal of Human Genetics|July 2, 2021
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathyHui Hui Wong, Sze Hwee Seet, Michael Maier, et al.
Pageof 12

Showing results (111-120 of 118) with videos related to

Sort By:
Pageof 12
You have reached the last page of results.This site can display upto 118 results.
Human Molecular Genetics|October 10, 2013
Recessive TTN truncating mutations define novel forms of core myopathy with heart diseaseClaire Chauveau, Carsten G Bonnemann, Cedric Julien, et al.
Orphanet Journal of Rare Diseases|November 19, 2015
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birthEmily J Todd, Kyle S Yau, Royston Ong, et al.
JAMA|July 25, 2014
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficienciesRobert W Taylor, Angela Pyle, Helen Griffin, et al.
American Journal of Human Genetics|June 4, 2016
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain DeficiencyRikke K J Olsen, Eliška Koňaříková, Teresa A Giancaspero, et al.
American Journal of Human Genetics|October 18, 2016
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationGina L O'Grady, Heather A Best, Tamar E Sztal, et al.
American Journal of Human Genetics|June 11, 2013
Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathyGianina Ravenscroft, Satoko Miyatake, Vilma-Lotta Lehtokari, et al.
American Journal of Human Genetics|May 26, 2021
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathyHui Hui Wong, Sze Hwee Seet, Michael Maier, et al.
American Journal of Human Genetics|July 2, 2021
Loss of C2orf69 defines a fatal autoinflammatory syndrome in humans and zebrafish that evokes a glycogen-storage-associated mitochondriopathyHui Hui Wong, Sze Hwee Seet, Michael Maier, et al.
Pageof 12