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

Talim

Showing results (131-140 of 159) with videos related to

Pageof 16
Sort By:
Neurology|April 26, 2001
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain diseaseB Cormand, H Pihko, M Bayés, et al.
Neuromuscular Disorders : NMD|July 30, 2017
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter studyGulcin Akinci, Haluk Topaloglu, Tevfik Demir, et al.
Scientific Reports|April 6, 2021
Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium fluxGülsüm Kayman Kürekçi, Ecem Kural Mangit, Cansu Koyunlar, et al.
Neuromuscular Disorders : NMD|December 18, 2003
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycanPervin Dinçer, Burcu Balci, Yeliz Yuva, et al.
Neurology|August 28, 2002
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophyA J van der Kooi, G Bonne, B Eymard, et al.
World Journal of Pediatrics : WJP|November 23, 2011
Solid tumors in Turkish children: a multicenter studyAyper Kacar, Irem Paker, Zuhal Akcoren, et al.
Developmental Cell|November 16, 2001
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1A Yoshida, K Kobayashi, H Manya, et al.
Brain : a Journal of Neurology|April 7, 2007
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneKlaus Gempel, Haluk Topaloglu, Beril Talim, et al.
American Journal of Human Genetics|July 11, 2006
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitKatrin Hoffmann, Juliane S Muller, Sigmar Stricker, et al.
American Journal of Human Genetics|August 5, 2014
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathyPankaj B Agrawal, Christopher R Pierson, Mugdha Joshi, et al.
Pageof 16

Showing results (131-140 of 159) with videos related to

Sort By:
Pageof 16
Neurology|April 26, 2001
Clinical and genetic distinction between Walker-Warburg syndrome and muscle-eye-brain diseaseB Cormand, H Pihko, M Bayés, et al.
Neuromuscular Disorders : NMD|July 30, 2017
Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter studyGulcin Akinci, Haluk Topaloglu, Tevfik Demir, et al.
Scientific Reports|April 6, 2021
Knockout of zebrafish desmin genes does not cause skeletal muscle degeneration but alters calcium fluxGülsüm Kayman Kürekçi, Ecem Kural Mangit, Cansu Koyunlar, et al.
Neuromuscular Disorders : NMD|December 18, 2003
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of alpha-dystroglycanPervin Dinçer, Burcu Balci, Yeliz Yuva, et al.
Neurology|August 28, 2002
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophyA J van der Kooi, G Bonne, B Eymard, et al.
World Journal of Pediatrics : WJP|November 23, 2011
Solid tumors in Turkish children: a multicenter studyAyper Kacar, Irem Paker, Zuhal Akcoren, et al.
Developmental Cell|November 16, 2001
Muscular dystrophy and neuronal migration disorder caused by mutations in a glycosyltransferase, POMGnT1A Yoshida, K Kobayashi, H Manya, et al.
Brain : a Journal of Neurology|April 7, 2007
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) geneKlaus Gempel, Haluk Topaloglu, Beril Talim, et al.
American Journal of Human Genetics|July 11, 2006
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitKatrin Hoffmann, Juliane S Muller, Sigmar Stricker, et al.
American Journal of Human Genetics|August 5, 2014
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathyPankaj B Agrawal, Christopher R Pierson, Mugdha Joshi, et al.
Pageof 16