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

A Munnich

Showing results (171-180 of 573) with videos related to

Pageof 58
Sort By:
Journal of Hepatology|March 9, 2000
Fatal lactic acidosis and liver steatosis associated with didanosine and stavudine treatment: a respiratory chain dysfunction?F G Brivet, I Nion, B Mégarbane, et al.
Archives Des Maladies Du Coeur Et Des Vaisseaux|December 22, 1999
[Metabolic and genetic investigations in childhood cardiomyopathies]D Bonnet, P Rustin, A Rötig, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)A Rötig, V Cormier, P Chatelain, et al.
Lancet (London, England)|July 6, 1991
Assessment of the mitochondrial respiratory chainP Rustin, D Chretien, T Bourgeron, et al.
Human Genetics|August 1, 1996
Possible genetic heterogeneity in the Saethre-Chotzen syndromeH W Ma, E Lajeunie, N de Parseval, et al.
Neuropediatrics|August 1, 1986
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's diseaseG Mitchell, H Ogier, A Munnich, et al.
Lancet (London, England)|May 17, 1980
Fatty-acid-responsive alopecia in multiple carboxylase deficiencyA Munnich, J M Saudubray, F X Coude, et al.
American Journal of Medical Genetics|August 17, 1999
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndromeS Briault, S Odent, J Lucas, et al.
Free Radical Research|November 8, 2001
Human cultured skin fibroblasts survive profound inherited ubiquinone depletionV Geromel, N Kadhom, I Ceballos-Picot, et al.
Journal of Medical Genetics|July 4, 2001
Genotype-phenotype correlation in hereditary multiple exostosesC Francannet, A Cohen-Tanugi, M Le Merrer, et al.
Pageof 58

Showing results (171-180 of 573) with videos related to

Sort By:
Pageof 58
Journal of Hepatology|March 9, 2000
Fatal lactic acidosis and liver steatosis associated with didanosine and stavudine treatment: a respiratory chain dysfunction?F G Brivet, I Nion, B Mégarbane, et al.
Archives Des Maladies Du Coeur Et Des Vaisseaux|December 22, 1999
[Metabolic and genetic investigations in childhood cardiomyopathies]D Bonnet, P Rustin, A Rötig, et al.
Journal of Inherited Metabolic Disease|January 1, 1993
Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy and deafness (DIDMOAD, Wolfram syndrome)A Rötig, V Cormier, P Chatelain, et al.
Lancet (London, England)|July 6, 1991
Assessment of the mitochondrial respiratory chainP Rustin, D Chretien, T Bourgeron, et al.
Human Genetics|August 1, 1996
Possible genetic heterogeneity in the Saethre-Chotzen syndromeH W Ma, E Lajeunie, N de Parseval, et al.
Neuropediatrics|August 1, 1986
Neurological deterioration and lactic acidemia in biotinidase deficiency. A treatable condition mimicking Leigh's diseaseG Mitchell, H Ogier, A Munnich, et al.
Lancet (London, England)|May 17, 1980
Fatty-acid-responsive alopecia in multiple carboxylase deficiencyA Munnich, J M Saudubray, F X Coude, et al.
American Journal of Medical Genetics|August 17, 1999
Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndromeS Briault, S Odent, J Lucas, et al.
Free Radical Research|November 8, 2001
Human cultured skin fibroblasts survive profound inherited ubiquinone depletionV Geromel, N Kadhom, I Ceballos-Picot, et al.
Journal of Medical Genetics|July 4, 2001
Genotype-phenotype correlation in hereditary multiple exostosesC Francannet, A Cohen-Tanugi, M Le Merrer, et al.
Pageof 58