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

T Voit

Showing results (71-80 of 143) with videos related to

Pageof 15
Sort By:
Neuromuscular Disorders : NMD|April 30, 1999
Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardationT Voit, R D Cohn, J Sperner, et al.
Human Molecular Genetics|July 1, 1996
A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-waveU Lenk, K Oexle, T Voit, et al.
American Journal of Medical Genetics|May 3, 1996
Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalismR D Cohn, G Gillessen-Kaesbach, W B Dobyns, et al.
Human Molecular Genetics|January 4, 2001
Autosomal dominant transmission of GLUT1 deficiencyJ Klepper, M Willemsen, A Verrips, et al.
Neuropediatrics|June 24, 2010
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1J Schessl, A Columbus, Y Hu, et al.
Neuropediatrics|September 26, 2001
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathyH H Goebel, L E Halbig, L Goldfarb, et al.
Neuropediatrics|May 8, 2008
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H)A Koy, B Ilkovski, N Laing, et al.
Acta Paediatrica (Oslo, Norway : 1992)|January 1, 1994
Multisystem triglyceride storage disorder without ichthyosis in two siblingsR Wessalowski, H Schroten, E Neuen-Jacob, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2000
Acute cerebellitis with near-fatal cerebellar swelling and benign outcome under conservative treatment with high dose steroidsG Göhlich-Ratmann, M Wallot, M Baethmann, et al.
Neuromuscular Disorders : NMD|January 11, 2005
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trialL Klinge, V Straub, U Neudorf, et al.
Pageof 15

Showing results (71-80 of 143) with videos related to

Sort By:
Pageof 15
Neuromuscular Disorders : NMD|April 30, 1999
Merosin-positive congenital muscular dystrophy with transient brain dysmyelination, pontocerebellar hypoplasia and mental retardationT Voit, R D Cohn, J Sperner, et al.
Human Molecular Genetics|July 1, 1996
A cysteine 3340 substitution in the dystroglycan-binding domain of dystrophin associated with Duchenne muscular dystrophy, mental retardation and absence of the ERG b-waveU Lenk, K Oexle, T Voit, et al.
American Journal of Medical Genetics|May 3, 1996
Diffuse polymicrogyria associated with an unusual pattern of multiple congenital anomalies including turribrachycephaly and hypogenitalismR D Cohn, G Gillessen-Kaesbach, W B Dobyns, et al.
Human Molecular Genetics|January 4, 2001
Autosomal dominant transmission of GLUT1 deficiencyJ Klepper, M Willemsen, A Verrips, et al.
Neuropediatrics|June 24, 2010
Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1J Schessl, A Columbus, Y Hu, et al.
Neuropediatrics|September 26, 2001
Reducing body myopathy with cytoplasmic bodies and rigid spine syndrome: a mixed congenital myopathyH H Goebel, L E Halbig, L Goldfarb, et al.
Neuropediatrics|May 8, 2008
Nemaline myopathy with exclusively intranuclear rods and a novel mutation in ACTA1 (Q139H)A Koy, B Ilkovski, N Laing, et al.
Acta Paediatrica (Oslo, Norway : 1992)|January 1, 1994
Multisystem triglyceride storage disorder without ichthyosis in two siblingsR Wessalowski, H Schroten, E Neuen-Jacob, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 22, 2000
Acute cerebellitis with near-fatal cerebellar swelling and benign outcome under conservative treatment with high dose steroidsG Göhlich-Ratmann, M Wallot, M Baethmann, et al.
Neuromuscular Disorders : NMD|January 11, 2005
Safety and efficacy of recombinant acid alpha-glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trialL Klinge, V Straub, U Neudorf, et al.
Pageof 15