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J-M Rozet

Showing results (11-20 of 57) with videos related to

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Human Genetics|April 1, 1995
Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's diseaseS Gerber, J M Rozet, D Bonneau, et al.
Human Genetics|June 1, 1996
Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13A Camuzat, J M Rozet, H Dollfus, et al.
Journal of Medical Genetics|May 1, 1993
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locusD Bonneau, J M Rozet, C Bulteau, et al.
Journal Francais D'Ophtalmologie|March 16, 2005
[Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update]S Hanein, I Perrault, S Gerber, et al.
Journal Francais D'Ophtalmologie|January 9, 2010
[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation]N Aboussair, A Berahou, I Perrault, et al.
Journal of Medical Genetics|July 5, 2003
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null alleleI Perrault, S Hanein, S Gerber, et al.
Nature Genetics|March 1, 1994
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locusP Saugier-Veber, A Munnich, D Bonneau, et al.
European Journal of Ophthalmology|July 23, 1998
Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosaE H Souied, J M Rozet, S Gerber, et al.
Nature|September 15, 1994
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasiaF Rousseau, J Bonaventure, L Legeai-Mallet, et al.
American Journal of Human Genetics|March 26, 1999
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3A Cabot, J M Rozet, S Gerber, et al.
Pageof 6

Showing results (11-20 of 57) with videos related to

Sort By:
Pageof 6
Human Genetics|April 1, 1995
Exclusion of the cone-specific alpha-subunit of the transducin gene in Stargardt's diseaseS Gerber, J M Rozet, D Bonneau, et al.
Human Genetics|June 1, 1996
Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13A Camuzat, J M Rozet, H Dollfus, et al.
Journal of Medical Genetics|May 1, 1993
X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locusD Bonneau, J M Rozet, C Bulteau, et al.
Journal Francais D'Ophtalmologie|March 16, 2005
[Leber congenital amaurosis: comprehensive survey of genetic heterogeneity. A clinical definition update]S Hanein, I Perrault, S Gerber, et al.
Journal Francais D'Ophtalmologie|January 9, 2010
[First North African observation of Leber congenital amaurosis secondary to CEP290 gene mutation]N Aboussair, A Berahou, I Perrault, et al.
Journal of Medical Genetics|July 5, 2003
Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null alleleI Perrault, S Hanein, S Gerber, et al.
Nature Genetics|March 1, 1994
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locusP Saugier-Veber, A Munnich, D Bonneau, et al.
European Journal of Ophthalmology|July 23, 1998
Two novel missense mutations in the peripherin/RDS gene in two unrelated French patients with autosomal dominant retinitis pigmentosaE H Souied, J M Rozet, S Gerber, et al.
Nature|September 15, 1994
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasiaF Rousseau, J Bonaventure, L Legeai-Mallet, et al.
American Journal of Human Genetics|March 26, 1999
A gene for X-linked idiopathic congenital nystagmus (NYS1) maps to chromosome Xp11.4-p11.3A Cabot, J M Rozet, S Gerber, et al.
Pageof 6