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

Y Indo

Showing results (41-50 of 51) with videos related to

Pageof 6
Sort By:
Journal of Inherited Metabolic Disease|January 1, 1992
Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modificationH Mitsubuchi, I Matsuda, Y Nobukuni, et al.
Biochimica Et Biophysica Acta|November 25, 1993
Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complexY Nobukuni, H Mitsubuchi, Y Hayashida, et al.
Neuropediatrics|April 25, 2000
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorderE Toscano, R della Casa, S Mardy, et al.
The Journal of Biological Chemistry|September 25, 1989
Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl-coenzyme A, short chain acyl-coenzyme A, and isovaleryl-coenzyme A dehydrogenases. Sequence homology of four enzymes of the acyl-CoA dehydrogenase familyY Matsubara, Y Indo, E Naito, et al.
Journal of Human Genetics|June 11, 1998
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complexM Tsuruta, H Mitsubuchi, S Mardy, et al.
Nature Genetics|August 1, 1996
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosisY Indo, M Tsuruta, Y Hayashida, et al.
Revista De Neurologia|August 3, 2005
[Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome]M Raspall-Chaure, M Del Toro-Riera, M Gratacós, et al.
Pediatric Research|November 14, 1997
Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidationT Kamijo, Y Indo, M Souri, et al.
Human Mutation|October 23, 2001
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiencyY Indo, S Mardy, Y Miura, et al.
Human Genetics|November 9, 2000
Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosisY Miura, M Hiura, K Torigoe, et al.
Pageof 6

Showing results (41-50 of 51) with videos related to

Sort By:
Pageof 6
Journal of Inherited Metabolic Disease|January 1, 1992
Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modificationH Mitsubuchi, I Matsuda, Y Nobukuni, et al.
Biochimica Et Biophysica Acta|November 25, 1993
Heterogeneity of mutations in maple syrup urine disease (MSUD): screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto-acid dehydrogenase multienzyme complexY Nobukuni, H Mitsubuchi, Y Hayashida, et al.
Neuropediatrics|April 25, 2000
Multisystem involvement in congenital insensitivity to pain with anhidrosis (CIPA), a nerve growth factor receptor(Trk A)-related disorderE Toscano, R della Casa, S Mardy, et al.
The Journal of Biological Chemistry|September 25, 1989
Molecular cloning and nucleotide sequence of cDNAs encoding the precursors of rat long chain acyl-coenzyme A, short chain acyl-coenzyme A, and isovaleryl-coenzyme A dehydrogenases. Sequence homology of four enzymes of the acyl-CoA dehydrogenase familyY Matsubara, Y Indo, E Naito, et al.
Journal of Human Genetics|June 11, 1998
Molecular basis of intermittent maple syrup urine disease: novel mutations in the E2 gene of the branched-chain alpha-keto acid dehydrogenase complexM Tsuruta, H Mitsubuchi, S Mardy, et al.
Nature Genetics|August 1, 1996
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosisY Indo, M Tsuruta, Y Hayashida, et al.
Revista De Neurologia|August 3, 2005
[Congenital insensitivity to pain with anhidrosis associated with congenital myasthenic syndrome]M Raspall-Chaure, M Del Toro-Riera, M Gratacós, et al.
Pediatric Research|November 14, 1997
Medium chain 3-ketoacyl-coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidationT Kamijo, Y Indo, M Souri, et al.
Human Mutation|October 23, 2001
Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiencyY Indo, S Mardy, Y Miura, et al.
Human Genetics|November 9, 2000
Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosisY Miura, M Hiura, K Torigoe, et al.
Pageof 6