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

Bruno Maranda

Showing results (41-50 of 63) with videos related to

Pageof 7
Sort By:
Journal of Medical Genetics|September 27, 2012
Mutations in TMEM231 cause Joubert syndrome in French CanadiansMyriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, et al.
JCI Insight|October 5, 2016
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysisHani Bagheri, Chansonette Badduke, Ying Qiao, et al.
Journal of Medical Genetics|February 21, 2013
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresiaMark E Samuels, Jacek Majewski, Najmeh Alirezaie, et al.
American Journal of Human Genetics|March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationMyriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.
Advances in Experimental Medicine and Biology|July 30, 2017
The Québec NTBC Study, Fernando Alvarez, Suzanne Atkinson, et al.
American Journal of Human Genetics|May 13, 2014
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindnessIsabelle Perrault, Fadi F Hamdan, Marlène Rio, et al.
Journal of Inherited Metabolic Disease|February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Molecular Genetics and Metabolism|August 14, 2012
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in QuébecJean Larochelle, Fernando Alvarez, Jean-François Bussières, et al.
Human Mutation|December 19, 2009
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, K Michael Gibson, et al.
Human Mutation|June 12, 2008
Molecular and clinical genetics of mitochondrial diseases due to POLG mutationsLee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, et al.
Pageof 7

Showing results (41-50 of 63) with videos related to

Sort By:
Pageof 7
Journal of Medical Genetics|September 27, 2012
Mutations in TMEM231 cause Joubert syndrome in French CanadiansMyriam Srour, Fadi F Hamdan, Jeremy A Schwartzentruber, et al.
JCI Insight|October 5, 2016
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysisHani Bagheri, Chansonette Badduke, Ying Qiao, et al.
Journal of Medical Genetics|February 21, 2013
Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresiaMark E Samuels, Jacek Majewski, Najmeh Alirezaie, et al.
American Journal of Human Genetics|March 20, 2012
Mutations in C5ORF42 cause Joubert syndrome in the French Canadian populationMyriam Srour, Jeremy Schwartzentruber, Fadi F Hamdan, et al.
Advances in Experimental Medicine and Biology|July 30, 2017
The Québec NTBC Study, Fernando Alvarez, Suzanne Atkinson, et al.
American Journal of Human Genetics|May 13, 2014
Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical blindnessIsabelle Perrault, Fadi F Hamdan, Marlène Rio, et al.
Journal of Inherited Metabolic Disease|February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Molecular Genetics and Metabolism|August 14, 2012
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in QuébecJean Larochelle, Fernando Alvarez, Jean-François Bussières, et al.
Human Mutation|December 19, 2009
Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, K Michael Gibson, et al.
Human Mutation|June 12, 2008
Molecular and clinical genetics of mitochondrial diseases due to POLG mutationsLee-Jun C Wong, Robert K Naviaux, Nicola Brunetti-Pierri, et al.
Pageof 7