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P Calvas

Showing results (61-70 of 71) with videos related to

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Journal of Neuropathology and Experimental Neurology|April 22, 2004
Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide geneR Vidal, B Ghetti, M Takao, et al.
Journal of Medical Genetics|January 7, 2005
Identification of a new locus for isolated familial keratoconus at 2p24H Hutchings, H Ginisty, M Le Gallo, et al.
European Neurology|January 1, 1997
New mutations in the X-linked form of Charcot-Marie-Tooth diseaseP Latour, A Fabreguette, C Ressot, et al.
Journal of Medical Genetics|September 3, 2004
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataractP Reynier, P Amati-Bonneau, C Verny, et al.
Clinical Oral Investigations|July 10, 2020
Re-focusing on Agnathia-Otocephaly complexC Dubucs, N Chassaing, C Sergi, et al.
Nature Genetics|December 1, 1996
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosisI Perrault, J M Rozet, P Calvas, et al.
Molecular Vision|August 19, 2011
Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a familyD A Mackey, A W Hewitt, J B Ruddle, et al.
Human Genetics|October 7, 2018
Implication of non-coding PAX6 mutations in aniridiaJulie Plaisancié, M Tarilonte, P Ramos, et al.
Journal of the Neurological Sciences|October 22, 2019
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variantsJ Lerat, C Magdelaine, A Lunati, et al.
Mitochondrion|December 15, 2007
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategyS Bannwarth, V Procaccio, C Rouzier, et al.
Pageof 8

Showing results (61-70 of 71) with videos related to

Sort By:
Pageof 8
Journal of Neuropathology and Experimental Neurology|April 22, 2004
Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide geneR Vidal, B Ghetti, M Takao, et al.
Journal of Medical Genetics|January 7, 2005
Identification of a new locus for isolated familial keratoconus at 2p24H Hutchings, H Ginisty, M Le Gallo, et al.
European Neurology|January 1, 1997
New mutations in the X-linked form of Charcot-Marie-Tooth diseaseP Latour, A Fabreguette, C Ressot, et al.
Journal of Medical Genetics|September 3, 2004
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataractP Reynier, P Amati-Bonneau, C Verny, et al.
Clinical Oral Investigations|July 10, 2020
Re-focusing on Agnathia-Otocephaly complexC Dubucs, N Chassaing, C Sergi, et al.
Nature Genetics|December 1, 1996
Retinal-specific guanylate cyclase gene mutations in Leber's congenital amaurosisI Perrault, J M Rozet, P Calvas, et al.
Molecular Vision|August 19, 2011
Pediatric cataract, myopic astigmatism, familial exudative vitreoretinopathy and primary open-angle glaucoma co-segregating in a familyD A Mackey, A W Hewitt, J B Ruddle, et al.
Human Genetics|October 7, 2018
Implication of non-coding PAX6 mutations in aniridiaJulie Plaisancié, M Tarilonte, P Ramos, et al.
Journal of the Neurological Sciences|October 22, 2019
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variantsJ Lerat, C Magdelaine, A Lunati, et al.
Mitochondrion|December 15, 2007
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategyS Bannwarth, V Procaccio, C Rouzier, et al.
Pageof 8