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B Chabrol

Showing results (151-160 of 173) with videos related to

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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 17, 2021
Clinical characteristics of COVID-19 infection in polyhandicapped persons in FranceM-C Rousseau, M Hully, M Milh, et al.
Journal Francais D'Ophtalmologie|April 12, 2008
[Primary exotropia: importance of cerebral MRI]C Baeteman, D Denis, C Loudot, et al.
American Journal of Medical Genetics. Part A|June 15, 2007
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndromeA Cano, C Rouzier, S Monnot, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 9, 2020
Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature reviewJ Chavany, A Cano, B Roquelaure, et al.
European Journal of Human Genetics : EJHG|April 11, 2000
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28L Villard, V des Portes, N Levy, et al.
Clinical Genetics|June 4, 2014
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disordersA Chaussenot, C Rouzier, M Quere, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 17, 2012
[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management]F Feillet, H Ogier, D Cheillan, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|June 20, 2018
Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M)B Chabrol, P Jacquin, L Francois, et al.
Journal of Medical Genetics|August 10, 2010
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 proteinC Rouzier, S Le Guédard-Méreuze, K Fragaki, et al.
Clinical Genetics|May 20, 2014
Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family historyK Nguyen, A Putoux, T Busa, et al.
Pageof 18

Showing results (151-160 of 173) with videos related to

Sort By:
Pageof 18
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|May 17, 2021
Clinical characteristics of COVID-19 infection in polyhandicapped persons in FranceM-C Rousseau, M Hully, M Milh, et al.
Journal Francais D'Ophtalmologie|April 12, 2008
[Primary exotropia: importance of cerebral MRI]C Baeteman, D Denis, C Loudot, et al.
American Journal of Medical Genetics. Part A|June 15, 2007
Identification of novel mutations in WFS1 and genotype-phenotype correlation in Wolfram syndromeA Cano, C Rouzier, S Monnot, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|March 9, 2020
Mutations in NBAS and SCYL1, genetic causes of recurrent liver failure in children: Three case reports and a literature reviewJ Chavany, A Cano, B Roquelaure, et al.
European Journal of Human Genetics : EJHG|April 11, 2000
Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28L Villard, V des Portes, N Levy, et al.
Clinical Genetics|June 4, 2014
Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disordersA Chaussenot, C Rouzier, M Quere, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|January 17, 2012
[Medium-chain acyl-CoA-dehydrogenase (MCAD) deficiency: French consensus for neonatal screening, diagnosis, and management]F Feillet, H Ogier, D Cheillan, et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|June 20, 2018
Transition from pediatric to adult care in adolescents with hereditary metabolic diseases: Specific guidelines from the French network for rare inherited metabolic diseases (G2M)B Chabrol, P Jacquin, L Francois, et al.
Journal of Medical Genetics|August 10, 2010
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 proteinC Rouzier, S Le Guédard-Méreuze, K Fragaki, et al.
Clinical Genetics|May 20, 2014
Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family historyK Nguyen, A Putoux, T Busa, et al.
Pageof 18