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Showing results (31-40 of 49) with videos related to

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JIMD Reports|February 23, 2013
Sight-threatening phenylketonuric encephalopathy in a young adult, reversed by dietS Rubin, A L Le Piffer, M B Rougier, et al.
Revue Neurologique|June 1, 2025
French guidelines for the diagnosis and management of pure hereditary spastic paraplegiaL Mania-Pâris, C Ewenczyk, G Nicolas, et al.
American Journal of Human Genetics|September 22, 2001
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlationD Rodriguez, F Gauthier, E Bertini, et al.
La Revue De Medecine Interne|November 26, 2016
[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases]O Lidove, N Belmatoug, R Froissart, et al.
Revue Neurologique|October 22, 2013
[Cavitary lesions in multiple sclerosis: multicenter study on twenty patients]A Corlobé, D Renard, C Goizet, et al.
Clinical Genetics|February 21, 2018
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid featuresS Moutton, A-L Bruel, M Assoum, et al.
Journal of Medical Genetics|October 4, 2005
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palateF Laumonnier, S Holbert, N Ronce, et al.
Clinical Genetics|February 4, 2017
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing dataS Nambot, D Gavrilov, J Thevenon, et al.
Revue Neurologique|June 17, 2011
[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases]C Carra-Dalliere, L Horzinski, X Ayrignac, 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.
Pageof 5

Showing results (31-40 of 49) with videos related to

Sort By:
Pageof 5
JIMD Reports|February 23, 2013
Sight-threatening phenylketonuric encephalopathy in a young adult, reversed by dietS Rubin, A L Le Piffer, M B Rougier, et al.
Revue Neurologique|June 1, 2025
French guidelines for the diagnosis and management of pure hereditary spastic paraplegiaL Mania-Pâris, C Ewenczyk, G Nicolas, et al.
American Journal of Human Genetics|September 22, 2001
Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlationD Rodriguez, F Gauthier, E Bertini, et al.
La Revue De Medecine Interne|November 26, 2016
[Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases]O Lidove, N Belmatoug, R Froissart, et al.
Revue Neurologique|October 22, 2013
[Cavitary lesions in multiple sclerosis: multicenter study on twenty patients]A Corlobé, D Renard, C Goizet, et al.
Clinical Genetics|February 21, 2018
Truncating variants of the DLG4 gene are responsible for intellectual disability with marfanoid featuresS Moutton, A-L Bruel, M Assoum, et al.
Journal of Medical Genetics|October 4, 2005
Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palateF Laumonnier, S Holbert, N Ronce, et al.
Clinical Genetics|February 4, 2017
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing dataS Nambot, D Gavrilov, J Thevenon, et al.
Revue Neurologique|June 17, 2011
[Natural history of adult-onset eIF2B-related disorders: a multicentric survey of 24 cases]C Carra-Dalliere, L Horzinski, X Ayrignac, 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.
Pageof 5