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C Goizet

Showing results (21-30 of 49) with videos related to

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Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|June 7, 2015
[Significance of the urine strip test in case of stunted growth]A Bertholet-Thomas, B Llanas, A Servais, et al.
American Journal of Medical Genetics|December 20, 2000
Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISHC Goizet, E Excoffier, L Taine, et al.
Clinical Neurology and Neurosurgery|October 14, 2008
Leber's optic neuropathy associated with disseminated white matter disease: a case report and reviewF Perez, O Anne, S Debruxelles, et al.
Neurology|March 27, 2002
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutationC Goizet, B Catargi, F Tison, et al.
American Journal of Medical Genetics|July 24, 1998
Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndromeL Taine, C Goizet, Z Q Wen, et al.
Neurology|January 13, 2006
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 yearsM Namekawa, P Ribai, I Nelson, et al.
Journal of the Peripheral Nervous System : JPNS|July 12, 2001
Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutationsA Vital, X Ferrer, A Lagueny, et al.
Clinical Genetics|May 15, 2009
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneityA Boukhris, G Stevanin, I Feki, et al.
European Journal of Medical Genetics|October 8, 2009
Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imagingM J Alao, D Bonneau, M Holder-Espinasse, et al.
Journal of Medical Genetics|February 27, 2004
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychiaC Goizet, R Ben Yaou, L Demay, et al.
Pageof 5

Showing results (21-30 of 49) with videos related to

Sort By:
Pageof 5
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie|June 7, 2015
[Significance of the urine strip test in case of stunted growth]A Bertholet-Thomas, B Llanas, A Servais, et al.
American Journal of Medical Genetics|December 20, 2000
Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISHC Goizet, E Excoffier, L Taine, et al.
Clinical Neurology and Neurosurgery|October 14, 2008
Leber's optic neuropathy associated with disseminated white matter disease: a case report and reviewF Perez, O Anne, S Debruxelles, et al.
Neurology|March 27, 2002
Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutationC Goizet, B Catargi, F Tison, et al.
American Journal of Medical Genetics|July 24, 1998
Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndromeL Taine, C Goizet, Z Q Wen, et al.
Neurology|January 13, 2006
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 yearsM Namekawa, P Ribai, I Nelson, et al.
Journal of the Peripheral Nervous System : JPNS|July 12, 2001
Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutationsA Vital, X Ferrer, A Lagueny, et al.
Clinical Genetics|May 15, 2009
Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneityA Boukhris, G Stevanin, I Feki, et al.
European Journal of Medical Genetics|October 8, 2009
Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imagingM J Alao, D Bonneau, M Holder-Espinasse, et al.
Journal of Medical Genetics|February 27, 2004
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychiaC Goizet, R Ben Yaou, L Demay, et al.
Pageof 5