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Showing results (121-130 of 126) with videos related to

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Nature Genetics|November 4, 2000
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathyP Bomont, L Cavalier, F Blondeau, et al.
Neurology|August 18, 2010
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorderL Lion-Francois, C Mignot, S Vicart, et al.
European Journal of Human Genetics : EJHG|July 26, 2000
Giant axonal neuropathy locus refinement to a < 590 kb critical intervalL Cavalier, C BenHamida, R Amouri, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndromeS M Houten, J Koster, G J Romeijn, et al.
Neuromuscular Disorders : NMD|July 6, 2011
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathiesS Vuillaumier-Barrot, C Bouchet-Seraphin, M Chelbi, et al.
Journal of Medical Genetics|October 26, 2010
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiencyA S Lebre, M Rio, L Faivre d'Arcier, et al.
Pageof 13

Showing results (121-130 of 126) with videos related to

Sort By:
Pageof 13
You have reached the last page of results.This site can display upto 126 results.
Nature Genetics|November 4, 2000
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathyP Bomont, L Cavalier, F Blondeau, et al.
Neurology|August 18, 2010
Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorderL Lion-Francois, C Mignot, S Vicart, et al.
European Journal of Human Genetics : EJHG|July 26, 2000
Giant axonal neuropathy locus refinement to a < 590 kb critical intervalL Cavalier, C BenHamida, R Amouri, et al.
European Journal of Human Genetics : EJHG|April 21, 2001
Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndromeS M Houten, J Koster, G J Romeijn, et al.
Neuromuscular Disorders : NMD|July 6, 2011
Intragenic rearrangements in LARGE and POMGNT1 genes in severe dystroglycanopathiesS Vuillaumier-Barrot, C Bouchet-Seraphin, M Chelbi, et al.
Journal of Medical Genetics|October 26, 2010
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiencyA S Lebre, M Rio, L Faivre d'Arcier, et al.
Pageof 13