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Cyril Goizet

Showing results (11-20 of 173) with videos related to

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Annales De Genetique|June 24, 2003
A patient with hydranencephaly and PEHO-like dysmorphic featuresCyril Goizet, Caroline Espil-Taris, Marie Husson, et al.
Neuromuscular Disorders : NMD|August 9, 2005
Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C geneAnne Vital, Xavier Ferrer, Cyril Goizet, et al.
Nephrologie & Therapeutique|March 15, 2015
[Cystinosis in adults: A systemic disease]Aude Servais, Cyril Goizet, Aurélia Bertholet-Thomas, et al.
European Journal of Medical Genetics|December 27, 2011
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotypeAurore Brun, Dorothée Cailley, Jérôme Toutain, et al.
Neuromuscular Disorders : NMD|May 2, 2012
A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutationsAnne Vital, Philippe Latour, Guilhem Sole, et al.
Journal of Medical Genetics|August 7, 2015
Charcot-Marie-Tooth diseases: an update and some new proposals for the classificationStéphane Mathis, Cyril Goizet, Meriem Tazir, et al.
Clinical Case Reports|September 28, 2020
A new phenotype of choreic syndrome associating severe freezing of gait and choreaBrice Laurens, Claire Delleci, Cyril Goizet, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 16, 2025
A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophyValeria Gioiosa, Christian Marcotulli, Manon Degoutin, et al.
European Journal of Medical Genetics|September 20, 2014
Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?Julien Van-Gils, Jérôme Harambat, Charlotte Jubert, et al.
Muscle & Nerve|November 3, 2009
Homozygosity for dominant mutations increases severity of muscle channelopathiesMarianne Arzel-Hézode, Damien Sternberg, Nacira Tabti, et al.
Pageof 18

Showing results (11-20 of 173) with videos related to

Sort By:
Pageof 18
Annales De Genetique|June 24, 2003
A patient with hydranencephaly and PEHO-like dysmorphic featuresCyril Goizet, Caroline Espil-Taris, Marie Husson, et al.
Neuromuscular Disorders : NMD|August 9, 2005
Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C geneAnne Vital, Xavier Ferrer, Cyril Goizet, et al.
Nephrologie & Therapeutique|March 15, 2015
[Cystinosis in adults: A systemic disease]Aude Servais, Cyril Goizet, Aurélia Bertholet-Thomas, et al.
European Journal of Medical Genetics|December 27, 2011
1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotypeAurore Brun, Dorothée Cailley, Jérôme Toutain, et al.
Neuromuscular Disorders : NMD|May 2, 2012
A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutationsAnne Vital, Philippe Latour, Guilhem Sole, et al.
Journal of Medical Genetics|August 7, 2015
Charcot-Marie-Tooth diseases: an update and some new proposals for the classificationStéphane Mathis, Cyril Goizet, Meriem Tazir, et al.
Clinical Case Reports|September 28, 2020
A new phenotype of choreic syndrome associating severe freezing of gait and choreaBrice Laurens, Claire Delleci, Cyril Goizet, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 16, 2025
A new variant in the UCHL1 gene supporting its implication in late-onset ataxia with optic atrophyValeria Gioiosa, Christian Marcotulli, Manon Degoutin, et al.
European Journal of Medical Genetics|September 20, 2014
Atypical hematologic and renal manifestations in neurofibromatosis type I: coincidence or pathophysiological link?Julien Van-Gils, Jérôme Harambat, Charlotte Jubert, et al.
Muscle & Nerve|November 3, 2009
Homozygosity for dominant mutations increases severity of muscle channelopathiesMarianne Arzel-Hézode, Damien Sternberg, Nacira Tabti, et al.
Pageof 18